All individuals with variants in gene KDM6B

115 entries on 2 pages. Showing entries 1 - 100.
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00301662 - - - M - (Germany) - - - - - ? Global developmental delay (HP:0001263); Intellectual disability (HP:0001249); Talipes equinovarus (HP:0001762); Generalized joint laxity (HP:0002761) 1 1 IMGAG
00301664 - - - M - (Germany) - - - - - ? Intellectual disability (HP:0001249); Global developmental delay (HP:0001263) 1 1 IMGAG
00309666 - - - M - - - - - - - ? Abnormality of the thyroid gland (HP:0000820); Global developmental delay (HP:0001263) 1 1 Andreas Laner
00311940 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00311941 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00311942 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00311943 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00311944 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00311945 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00311946 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00311947 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00311948 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00311949 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00311950 - PubMed: Faundes 2018 - - - (United Kingdom (Great Britain)) - - - - - ? - 1 1 Johan den Dunnen
00385451 patient PubMed: Ackerman 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - CHTD see paper; ..., mild pulmonary valve stenosis, mild aortic root dilatation, atrial septal defect, ventricular septal defect, patent ductus arteriosus (closed surgically); polyvalvular syndrome, involvement both semilunar and both atrioventricular valves; hypotonia, myopia, soft pale skin, joint hypermobility, mild facial dysmorphism 1 1 Johan den Dunnen
00397651 189768 - - F ? (Saudi Arabia) - - - - - NEDCFSA Autism, Absent speech, Neurodevelopmental delay 2 1 Andreas Laner
00433507 241192 - - M no Germany - - - - - NEDCFSA Axial hypotonia, Strabismus, Neurodevelopmental delay, Hypotonia, Oral motor hypotonia, Epicanthus, Esodeviation, Hypomelanotic macule 1 1 Andreas Laner
00435169 Pat1 PubMed: Stolerman 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., height 25-50th, weight 90-95th, OFC 90th; prominent nasal bridge/nose; coarse features; no prognathism; no prominent forehead; no prominent ears; widened hands; no syndactyly; no joint hypermobility; language delays; motor delays; no autism spectrum disorder; hypotonia 1 1 Johan den Dunnen
00435170 Pat2 PubMed: Stolerman 2019 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - NDD see paper; ..., height 25th, weight 90th, OFC 90th; prominent nasal bridge/nose; coarse features; no prognathism; prominent forehead; prominent ears; widened hands; no syndactyly; no joint hypermobility; language delays; motor delays; cognitive impairment; no autism spectrum disorder; hypotonia 1 1 Johan den Dunnen
00435171 Pat3 PubMed: Stolerman 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., height 85th, weight 76th, OFC 83rd; no prominent nasal bridge/nose; no coarse features; prognathism; no prominent forehead; no prominent ears; no widened hands; syndactyly; no joint hypermobility; motor delays; no autism spectrum disorder 1 1 Johan den Dunnen
00435172 Pat4 PubMed: Stolerman 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., height 25th, weight 10th, OFC 25-50th; no prominent nasal bridge/nose; coarse features; no prognathism; prominent forehead; prominent ears; language delays; autism spectrum disorder; no hypotonia 1 1 Johan den Dunnen
00435173 Pat5 PubMed: Stolerman 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., height 75th, weight 82nd; no prominent nasal bridge/nose; no coarse features; no prognathism; no prominent forehead; prominent ears; no widened hands; no syndactyly; joint hypermobility; language delays; motor delays; no autism spectrum disorder; hypotonia 1 1 Johan den Dunnen
00435174 Pat6 PubMed: Stolerman 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., height 50th, weight 90th, OFC 97th; no prominent nasal bridge/nose; no coarse features; no prognathism; no prominent forehead; prominent ears; no widened hands; no syndactyly; no joint hypermobility; language delays; motor delays; no cognitive impairment; autism spectrum disorder; hypotonia 1 1 Johan den Dunnen
00435175 Pat7 PubMed: Stolerman 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., height 25th, weight 25th, OFC 50–75th; no prominent nasal bridge/nose; coarse features; no prognathism; prominent forehead; prominent ears; no widened hands; no syndactyly; no joint hypermobility; language delays; motor delays; no autism spectrum disorder; hypotonia 1 1 Johan den Dunnen
00435176 Pat8 PubMed: Stolerman 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., height 25-50th, weight 50th, OFC 50th; no prominent nasal bridge/nose; no coarse features; no prognathism; no prominent forehead; no prominent ears; no widened hands; syndactyly; joint hypermobility; language delays; motor delays; cognitive impairment; autism spectrum disorder; hypotonia 1 1 Johan den Dunnen
00435177 Pat9 PubMed: Stolerman 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., height <1st, weight 6th, OFC 5th; no prominent nasal bridge/nose; no coarse features; no prognathism; no prominent forehead; prominent ears; no widened hands; no syndactyly; no joint hypermobility; language delays; motor delays; cognitive impairment; no autism spectrum disorder; no hypotonia 1 1 Johan den Dunnen
00435178 Pat10 PubMed: Stolerman 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., height 25–50th, weight 50–75th, OFC 10–25th; no prominent nasal bridge/nose; no coarse features; no prognathism; no prominent forehead; no prominent ears; no widened hands; no syndactyly; joint hypermobility; language delays; motor delays; autism spectrum disorder; no hypotonia 1 1 Johan den Dunnen
00435179 Pat11 PubMed: Stolerman 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., height 50th, weight 98th, OFC 97th; prominent nasal bridge/nose; coarse features; prognathism; prominent forehead; no prominent ears; widened hands; syndactyly; joint hypermobility; language delays; motor delays; cognitive impairment; autism spectrum disorder; hypotonia; sleeping problems 1 1 Johan den Dunnen
00435180 Pat12 PubMed: Stolerman 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., height 45th, weight 45th, OFC 25th; prominent nasal bridge/nose; coarse features; prognathism; prominent forehead; no prominent ears; widened hands; syndactyly; no joint hypermobility; language delays; no motor delays; cognitive impairment; autism spectrum disorder; hypotonia; congenital heart disease (abnormal vena cava in sinus corinarius, annulus of mitralis valve) 1 1 Johan den Dunnen
00435486 Pat1 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, family, has affected mother with dysmorphic features similar to the daugther; sister 10y-ADHD, PDD, NOS, TIQ=88 with learning and behavioural problems; father previously had poor social skills F - - - - - - - NDD see paper; ..., no pregnancy complications, vacuum extraction, Apgar 9,10,10; birth 39w+3d; mild language/speech delay, 18m-first words, 24m-started to understand speech; motor delay, 18m-first steps; no intellectual disability, learning difficulties; autism spectrum disorder; bossy, agressive (verbally); no psychosis/schizophrenia; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; symmetrically low reflexes, "wooden" motoric skills; no syndactyly; no vertebral abnormalities; distal brachydactyly (also in father),clinodactyly III,IV,V bilateral, short and broad feet,; no pectus excavatum; flat nasal bridge, deep set elanguage/speech delay, epicanthal folds, broad chin, anteverted nares, thin lips, coarse facial features, square face, prominent earlobes, Accessory nipple on left; no lip/cleft palate; mild hypermetropia; no strabismus; normal hearing; recurrent ear infections, ear tubes; no congenital heart disease; slow weight gain in first month due to breastfeeding problems, resolved after switching to bottle feeding; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; nasal speech 1 1 Johan den Dunnen
00435487 Pat2 PubMed: Rots 2023 family, has father with learning problems and dysmorphism (prominent forehead, amandel shaped eyes, synophrys, finger clubbing) and previous hip problems; fathers sister and mother have learning problems; brother 7y-ASD, normal IQ F - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 40w; language/speech delay, 18m-first words; motor delay, 22m-first steps; mild intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances, social developmental delay; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; mild intention tremor, "wooden" motoric skills; poor fine motoric skills; MRI brain normal; joint hypermobility (Breighton score 6/8); no syndactyly; no vertebral abnormalities; finger clubbing, clinodactyly IV and V bilateral; no pectus excavatum; hip dysplasia; prominent forehead, full eyebrows, deep set elanguage/speech delay, prominent chin, almond shaped palpebral fissures; no lip/cleft palate; hypermetropia; no strabismus; normal hearing; systolic heart murmor; slow weight gain in first month due to breastfeeding problems, resolved after switching to bottle feeding; as baby gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; 2 Cafe-au-lait spots; night incontinence; commonly head and abdominal pain 1 1 Johan den Dunnen
00435488 Pat3 PubMed: Rots 2023 2-generation family, 1 affected (beta-thalasemia carrier), unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., no pregnancy complication, vacuum extraction, Apgar 4/7, NICU; birth 41w+4d; language/speech delay, 3y-no words, 5y-started to make 1-2 word sentences; motor delay, 18m-first steps; moderate intellectual disability; autism spectrum disorder; irritability, anger, anxiety (associated with obstipation periods); No contact except parents and physician; no psychosis/schizophrenia; uses psychiatric drugs, Oxcarbazepine for behavioural problems Clobazam; sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; hard to independetly walk (uses assitive tools like wheelchair); poor fine motorical skills; 2y-MRI brain normal; joint hypermobility (Breighton score 6/8); no syndactyly; no vertebral abnormalities; clinodactyly IV and V bilateral,short and broad feet,; no pectus excavatum; square face, flat nasal bridge, deep set elanguage/speech delay, epicanthal folds, short filtrum, cupid bow lips, prominent ears; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; recurrent ear infections; no congenital heart disease; neonatal feeding difficulties; gastroesophageal reflux; constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; 1 cafe-au-lait spot; adenotomy due to hyperplasia; bronchial asthma; very common airway infections 1 1 Johan den Dunnen
00435489 Pat5 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 40w; language/speech delay, 14m-first words, uses words only functionally; motor delay; intellectual disability; autism spectrum disorder; behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; as child very active at night, as adult not anymore, low score on communication and socialisation; febrile seizure after BMR vaccination (around 14m), thereafter stagnation of social emotional and speech development; no hypotonia; no dystonia; no spasticity; walked on toes as a child; hypertonia at arousal, involuntary movements in face (tic); no joint hypermobility; no syndactyly; no vertebral abnormalities; flat feet, broad finger tips, curls up toes in shoes; no pectus excavatum; deep-set elanguage/speech delay, very blue irises, mild synophrys, full lower lip; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; recurrent ear infections; no congenital heart disease; 19y-cardiac arrest during anesthesia, cardiological evaluation normal; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; eats/drinks no cow's milk, no gluten and little soya; no allergy but seems sensitive to these products; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; metabolic screening increased essential amino acids alanin amongst others 1 1 Johan den Dunnen
00435490 Pat6 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., gestational diabetes, requiring insulin in 3rd term; birth 39w+3d; language/speech delay, 33m-first words; motor delay, 19m-first steps; mild intellectual disability; no autism spectrum disorder; ADHD; no psychosis/schizophrenia; uses psychiatric drugs, Medikinet due ADHD (switched from Rubifen); no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; relative macrocephaly, deep set elanguage/speech delay, full eyebrows, synophris,; no lip/cleft palate; hypermetropia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; phimosis; no cryptorchidism; tongue frenulum IQ because of dyslalia.; double appical hair whorl 1 1 Johan den Dunnen
00435491 Pat7 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives F - - - - - - - NDD see paper; ..., premature rupture amnion; birth 37w+0d; no language/speech delay; no motor delay, 14m-first steps; learning difficulties; no autism spectrum disorder; AHDS, aggression, problems in social interaction; no psychosis/schizophrenia; no use psychiatric drugs; sleep disturbances; seizures/epilepsy; no hypotonia; no dystonia; no spasticity; tics in stressfull situation; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; high forhaed, deep set elanguage/speech delay, short nose, short philtrum, full lips, preauricular pit on the right side, fetal finger pads; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties; no gastroesophageal reflux; no constipation; still feeding difficulties; no skin hyperlaxity; no genitourinary abnormalities; addidional maxiliar tooth 1 1 Johan den Dunnen
00435492 Pat8 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery, Cesarian section for breech presentation; birth 37w; language/speech delay, 24m-first words; motor delay, 24m-first steps; mild intellectual disability; autism spectrum disorder; ADHD; no psychosis/schizophrenia; uses psychiatric drugs, successively Risperidone methyphenydate, atomoxétine; sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain cerebellar mild cortical atrophy; joint hypermobility; no syndactyly; kyphosis; unilateral varus foot, clinodactyly 5th finger, short hands; no pectus excavatum; hypotelorism short philtrum,round nasal tip, high nasal bridge, deep set elanguage/speech delay, brachycephaly; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; congenital hip dislocation 1 1 Johan den Dunnen
00435493 Pat9 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., pregnancy uncomplicated, prolonged delivery, vacuum extraction; birth 38w+6d; language/speech delay; motor delay, 10m-first steps; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances, global developmental delay; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; preauricular tag on the right side; hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism 1 1 Johan den Dunnen
00435494 Pat11 PubMed: Rots 2023 family, affected adoptedhalf-brother/half-brother, mother with psychiatric problems not available for testing F - - - - - - - NDD see paper; ..., adopted with known history of gestational exposure to multiple drugs; language/speech delay; motor delay; intellectual disability; autism spectrum disorder; behavior problems; psychosis/schizophrenia; uses psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; abnormal movements; no spasticity; ataxia; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; vestibular aqueduct dilation; no congenital heart disease; carotid sinus hypermobility; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; recurrent skin infections when younger 1 2 Johan den Dunnen
00435495 Pat12 PubMed: Rots 2023 half-brother, adopted M - - - - - - - NDD see paper; ..., adopted with known history of gestational exposure to multiple drugs; language/speech delay; motor delay; intellectual disability; autism spectrum disorder; behavior problems; psychosis/schizophrenia; uses psychiatric drugs, not adherent; no sleep disturbances; no seizures/epilepsy; hypotonia; dystonic type episodes; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; history of vomiting; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; hypercalcemia, carnitine deficiency, vomiting, urinary and bowel incontinence 1 1 Johan den Dunnen
00435496 Pat13 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives F - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 39w; 12m-first words; motor delay, >24m-first steps; mild intellectual disability; no autism spectrum disorder; Tantrums, inattention; no psychosis/schizophrenia; no use psychiatric drugs; history of obstructive sleep apnea; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; neurogenic bladder; tethered cord; MRI brain normal; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; macrocephaly, prominent forehead, wide mouth, slightly prominent anti- helices, joint hypermobility; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, G-tube; no gastroesophageal reflux; chronic constipation; failure to thrive, history of frequent vomiting; no skin hyperlaxity; no genitourinary abnormalities; livedo reticularis 1 1 Johan den Dunnen
00435497 Pat15 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., pregnancy small for gestational age, C-section; birth 38w+0d; no language/speech delay, 19.5, but inconsistent use of words; consistent use of words 29m; motor delay, 25m-first steps; moderate intellectual disability; autism spectrum disorder; ADHD, aggression, problems in social interaction; no psychosis/schizophrenia; no use psychiatric drugs; sleep apnea; absence seizures and GTC; hypotonia; no dystonia; no spasticity; MRI brain normal; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; hypertelorism, synorphys, fine upper lip hair, deep set elanguage/speech delay, prominent upper nasal bridge with downturned nasal tip, short filtrum, prognathism, cheeks full (steroids), hypodontia, microdontia, wide hands, minimal hypermobility elbows, cryptorchidism; no lip/cleft palate; no hypermetropia/myopia; strabismus (exotropia); normal hearing; no recurrent ear infections; congenital heart disease (PDA); neonatal feeding difficulties, admitted to NICU for 8d for feeding difficulties; gastroesophageal reflux; constipation; on ketogenic diet; no skin hyperlaxity; no genitourinary abnormalities; cryptorchidism; admitted for pneumonia and was given dose of antibiotics which showed a "transformative improvement " in cognition/behavior after antibiotic administration. Dad describes change as using more words, longer attention span. Only temporary. He then received a steroid transfusion which again showed huge improvement which gradually wears off. He is now on oral prednisone, he gets crushed prednisone every 3 days, shown to have huge improvements to cognition and then he regresses back to his baseline. NYU plan is to bring him back in and do a few rounds of steroid pulse therapy. 1 1 Johan den Dunnen
00435498 Pat16 PubMed: Rots 2023 2-generation family, unaffected non-carrier mother, no affected relatives M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 40w+1d; 13m-first words; motor delay, 21m-first steps; learning difficulties; autism spectrum disorder; AHDS, aggressive, impulsive behaivior; psychosis/schizophrenia; uses psychiatric drugs, Methylphenidat; sleep disturbances; hyperphagia, problems in social interaction; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; tics; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; rhinitis sicca; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; hyperphagia; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism 1 1 Johan den Dunnen
00435499 Pat1;Pat17 PubMed: Bramswig 2017, PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - Germany - - - - - NDD see both papers; ..., birth 33w; language/speech delay, no speech; motor delay; severe intellectual disability (contributed by Pathogenic HNRNPU variant); no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain cerebral atrophy, multiple lesions including glial lesions, atrophy of the cerebellar vermis, corpus callosum agenesis; no joint hypermobility; no syndactyly; scoliosis; no pectus excavatum; coarse face, deep set elanguage/speech delay, hypertelorism, depressed nasal bridge, short nose, anteverted nares, low set ears, thin upper and everted lower lip vermelion, teeth abnormalities; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; congenital heart disease (ASD II); neonatal feeding difficulties; agenesis right kidney 1 1 Johan den Dunnen
00435500 Pat18 PubMed: Rots 2023 family, affected heterozygous carrier mother and sister M - - - - - - - NDD see paper; ..., infection near end of pregnancy; birth 32w; language/speech delay, 6m-first words, 24m-phrases/sentences; no motor delay, 15-16m-first steps; learning difficulties; autism spectrum disorder; anxiety, aggression; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; regression, 8m-loss of words; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; joint hypermobility knees; no syndactyly; no vertebral abnormalities; abnormalities hand/foot/finger (PIP joints prominent); no pectus excavatum; slight chest asymmetry; macrocephaly thin upper lip; no lip/cleft palate; myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; gastroesophageal reflux; constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; asthma in childhood, inguinal hernias; <3y-hospitalized 4-5X per year; 6m-bilateral inguinal hernia repair 1 1 Johan den Dunnen
00435501 Pat19 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., failed induction, fetal distress; birth 40w; no language/speech delay, 22m-first words, very slow progress; motor delay, 18m-first steps; no intellectual disability, learning difficulties; autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; developmental delay; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; mild ptosis lop ears; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; mild skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism 1 1 Johan den Dunnen
00435502 Pat20 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives F - - - - - - - NDD see paper; ..., vacuum extraction; birth 37w+6d; 14 m-first words; motor delay, 20m-first steps; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; coarse face, prominent forehead, flat nasal bridge, coarse lips, single central incisive tooth, plagiocephaly; no lip/cleft palate; no strabismus; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities 1 1 Johan den Dunnen
00435503 Pat21 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., pregnancy concern regarding LGA; birth 38w; language/speech delay, >42m-first words; motor delay, 48m-first steps; severe intellectual disability; autism spectrum disorder; probable ADHD; no psychosis/schizophrenia; uses psychiatric drugs, clonidine, biphentin; delayed sleep initiation and maintenance; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; 4y-MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; broad fingertips; no pectus excavatum; bilateral external tibial torsion; coarse features, deep set elanguage/speech delay, infraorbital creases, short and prominent philtrum, large teeth, large simple ears,; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; hypopigmented compared to family members 1 1 Johan den Dunnen
00435504 Pat22 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., Intrauterine growth restriction; birth 37w; language/speech delay, 24m-first words; motor delay, 18m-first steps; mild/borderline intellectual disability, learning difficulties; 5y6m-mild autism spectrum disorder; stubborn, "lazy"; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; bruxism; no seizures/epilepsy; no hypotonia; dystonic posture upper limbs; no spasticity, tendency tip-toe walking, botulinum toxin type A (BTX-A) injections performed at calfs (riceps surae muscle); mild dysartria; 10y5m-neurological evaluation cerebellar and extrapriamidal involvement with dystonic postures, slight piramidal signs; 3y-MRI brain subcortical cerebellum atrophy; no joint hypermobility; slight bilateral II,III,IV toe syndactyly; no vertebral abnormalities; right congenital radiocapitelar luxation with 15D right elbow extension limitation, varus deformity and 5D pronation and 20D supination limitation; no pectus excavatum; extra rib on each side, cervical vertebral fusion suspected; low anterior hairline, depressed nasal bridge, upturned nose, , anteverted nostrils, smooth philtrum, thin upper lip, retroauricular creases/dimples, broad face/full cheeks; no lip/cleft palate; hypermetropia; no strabismus; astigmatism; normal hearing; no recurrent ear infections; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; cafe-au-lait spots; considered overgrowth at some point in childhood; 5y9m-developmental assessment with Griffiths scale performance below 1SD; others below 2SD; features of ASD 1 1 Johan den Dunnen
00435505 Pat23 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., complicated delivery, Apgar 2/5, neonatal intensive care unit 15 days; birth 39w; language/speech delay, no words, only syllabes; motor delay, 18m-first steps; no autism spectrum disorder; agitation,agressivity; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; neonatal hypotonia; no dystonia; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; large nose; no lip/cleft palate; normal hearing; no congenital heart disease; neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; left pyelic duplicity; no cryptorchidism 1 1 Johan den Dunnen
00435506 Pat24 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, brother 5y-macrocephaly, speech apraxia, fine motor delay; brother 11y-speech delay (has not KDM6B variant) F - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 40w; 9m-first words; gross motor delay, 18-19m-first steps ; no intellectual disability; aggressive behavior, noncompliance, physical aggression, poor play skills; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; tethered spinal cord; 4y-MRI brain normal; no joint hypermobility; no syndactyly; scoliosis; abnormalities hand/foot/finger; no pectus excavatum; macrocephaly with frontal prominence, hypertelorism, deep-set and long and prominent eyelashes, overfolded ears, prognathism with lower diastema); no lip/cleft palate; congenital heart disease (pulmonary stenosis that resolved by 3y); 3y-ECG minimally dilated main and branch pulmonary arteries; neonatal feeding difficulties; gastroesophageal reflux; constipation; eosinophilic esophagitis; no skin hyperlaxity; no genitourinary abnormalities 1 1 Johan den Dunnen
00435507 Pat25 PubMed: Rots 2023 - F - - - - - - - NDD see paper; ..., gestational diabetes; birth 41w+5d; language/speech delay, <24mm-first words, 4y8m able to formulate sentences; motor delay, 23m-first steps; no autism spectrum disorder; anxiety; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; drooling; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; deep-set elanguage/speech delay, strabismus, well-defined philtrum, full cheeks, flat nasal bridge, anteverted nostrils, square face, mild synophris, overcrowded toes; no lip/cleft palate; hypermetropia; strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties; gastroesophageal reflux when younger; only eats mixed food, vomit if food pieces; no skin hyperlaxity; no genitourinary abnormalities 1 1 Johan den Dunnen
00435508 Pat26 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery, benign hydrocephalus a priori long delivery; language/speech delay, 30m-first words; motor delay, 18m-first steps; no intellectual disability; early and atypical depression, attention deficit, anxiety, atypical sensory; psychosis/schizophrenia; uses psychiatric drugs, past treatement risperdal, seroplex, laroxyl, lyrica, currently olanzapine; sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain platybasia, small foramen magnum; mild joint hypermobility; pes planus; no dysmorphic features; no lip/cleft palate; myopia, astigmatism; no strabismus; persistent nystagmus; normal hearing; no recurrent ear infections; no congenital heart disease; EKG/ECGy normal; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism 1 1 Johan den Dunnen
00435509 Pat27 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, older brother with ASD M - - - - - - - NDD see paper; ..., pregnancy shoulder dystocia; birth 40w+2d; language/speech delay; motor delay, 25m-first steps; no intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; previous sleep disturbances; no seizures/epilepsy; core hypotonia; no dystonia; increased tonus in legs, tip-toe walking; getting tired quickly; no joint hypermobility; no syndactyly; brachydactyly, broad toes; no pectus excavatum; long face, flat nasal bridge, anteverted nares, downslanted palpebral fissures, long philtrum; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; recurrent ear infections; no congenital heart disease; neonatal feeding difficulties; no gastroesophageal reflux; no constipation; diarrhea; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; common infections; fast develops hypothermia (35.5oC) 1 1 Johan den Dunnen
00435510 Pat28 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 40w+6d; language/speech delay; motor delay, 28m-first steps; mild intellectual disability; autism spectrum disorder; aggression; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; getting tired quickly; hyporeflexia; MRI brain possible mild general atrophy; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no lip/cleft palate; hypermetropia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; gastroesophageal reflux in infancy; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism 1 1 Johan den Dunnen
00435511 Pat29 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives F - - - - - - - NDD see paper; ..., gestational diabetes; birth 38w; language/speech delay, 19m-first words, communicates with vocalizations, very particular jargon made of bisyllabic words, often not understandable, but with rich and very particular verbal production; 4-5y-language understandable ; 7-8y-sentences, good aspects concerning understanding, attended school with the support teacher; motor delay, 25m-first steps; intellectual disability; autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; <1y-sleep disturbances; 5y6m onset seizures, long lasting complex partial seizures with hospitalization in intensive care unit, partial seizures during sleep, focal epilepsy with opercular seizures; current therapy Ethosuximide, Clobazam; hypotonia; MRI brain normal; no joint hypermobility; no syndactyly; scoliosis, dorsolumbar; very slight widening distal phalanx of the 1st finger, slightly broad and valgus first toe; no pectus excavatum; high forehead. slightly straight eyebrows slightly prominent nasal bridge prominent cheeks. fleshy lips, wide mouth, often open, with slightly subverted lips. diastasis of the incisors.; no lip/cleft palate; no strabismus; fundus oculi peripheral depigmentation strips; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities 1 1 Johan den Dunnen
00435512 Pat31 PubMed: Rots 2023 family, has half brother ID; mother intellectual disability, epilepsy, diabetes, bipolar disorder; full brother, ID, aggressive behavior F - - - - - - - NDD see paper; ..., maternal alcohol abuse; birth at term; language/speech delay, 18m-first words; motor delay, 21m-first steps; mild intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; small hands/ feet, clinodactyly of the fifth digit, palmar creases were norma, no persistent fingertip pads; no pectus excavatum; prominent nasal bridge, esotropia right eye, palpebral fissures measured 3 cm (90%), did not have eversion of the lower lateral eyelids, ptosis, or other eye findings suggestive of kabuki syndrome, ears were somewhat prominent and measured 6cm, mild prognathism and a somewhat prominent forehead; no lip/cleft palate; unilateral myopia causing right esotropia; strabismus; vision20/400 right eye and 20/30 causing amblyopia and right esotropia, not using right eye; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, lethargy interfered with taking bottle well; gastroesophageal reflux in infancy-resolved; no constipation; no skin hyperlaxity; no genitourinary abnormalities; hypoglycemia and presumed partial adrenal insufficiency 1 1 Johan den Dunnen
00435513 Pat32 PubMed: Rots 2023 family, heterozygous carrier father history of dyslexia, similarities to patient with respect to anxiety and behavioral rigidity; mother history of bicuspid aortic valve, aortic stenosis M - - - - - - - NDD see paper; ..., 8m-gestation hypertension; mother on bed rest last 6 weeks of pregnancy, mother had anti-Duffy antibodies, prenatal ultrasound showed heart abnormalities ; birth 40w; language/speech delay, 18m-first words; motor delay, 14m-first steps; no intellectual disability; autism spectrum disorder; ADHD, anxiety; no psychosis/schizophrenia; uses psychiatric drugs, multiple medications at different ages, including asenapine and Geodon; no sleep disturbances, mild articulation issues; no seizures/epilepsy; hypotonia, muscle issues in core and hands; no dystonia; no spasticity; occasional enuresis; joint hypermobility,m ild hypermobility in hands; no syndactyly; no vertebral abnormalities; soft hands, mild generalized brachydactyly with middle finger length:total hand length ratio of 40.1 % (slightly >3%ile); no pectus excavatum; borderline macrocephaly, relatively broad facial shape, upturned nasal tip; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; congenital heart disease (two muscular VSDs, bicuspid aortic valve, mild aortic tenosis, mild gradient in descending aorta suggesting a mild coarctation); mild stable aortic dilatation; no neonatal feeding difficulties; gastroesophageal reflux; constipation; excessive weight gain despite exercise and dietary monitoring (?related to medication); no skin hyperlaxity; no genitourinary abnormalities; cryptorchidism; premature adrenarche, advanced bone age, family history of hereditary hemochromatosis 1 2 Johan den Dunnen
00435514 Pat33 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 39w+6d; language/speech delay, 35m-first words; motor delay, 24m-walk; mild intellectual disability; autism spectrum disorder; poor social skills, stereotypic behaviour; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; cheerful; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; poor coordination skills; MRI brain normal; joint hypermobility; no syndactyly; hyperlordosis; hands broad, broad feet, short toes, sandal gap, mild clinodactyly dig 3-4; no pectus excavatum; high anterior hairline, prominent forehead, hypertelorism, broad mouth, protruding ears.; no lip/cleft palate; hypermetropia; no strabismus; astigmatism; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; infancy paroxysmal tonic downgaze/atypical ocular bobbing (resolved without treatment <2y) 1 1 Johan den Dunnen
00435515 Pat37 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 39w; language/speech delay, 15m-first words, 13y-one word phrases; motor delay, 20m-first steps; intellectual disability; no autism spectrum disorder; stubborn, aggressive, tantrums; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; 12m-onset myoclonic seizures; hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; prominent forehead; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; congenital posterior malalignment ventricular septal defect, severe subaortic stenosis and aortic root hypoplasia, interrupted aortic arch "B", required prostaglandin at birth and surgical repair, 1m-Norwood/Sano 6mm with small atrial septal defect left alone, 3m15d-severe "coarctation" at site of arch repair and required balloon, 7m-pulmonary homograft patch reconstruction of aortic arch; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; penile torsion released at circumcision; no cryptorchidism 1 1 Johan den Dunnen
00435516 Pat39 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 37w+2d; language/speech delay, 24m-first words; motor delay, 22m-first steps; mild intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; nose tip upright; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism 1 1 Johan den Dunnen
00435517 Pat40 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, family, has father with similar phenotype M - - - - - - - NDD see paper; ..., 1st and 2nd trimester bleeding; birth 41w; language/speech delay, 24-30m-first words; motor delay, 19m-first steps; mild intellectual disability; no autism spectrum disorder; no behavior problems; no use psychiatric drugs; no sleep disturbances; moderate global developmental delay; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; prominent fingertip pads; no pectus excavatum; downward sloping shoulders, proportionate tall stature, talipes; downturned corners of mouth; cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, NG fed 3 days; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism 1 1 Johan den Dunnen
00435518 Pat41 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, twin pregnancy, half brother shares 2p deletion (del(2)(p22.3p22.3)) and overgrowth, but mother/twin brother have deletion with normal development F - - - - - - - NDD see paper; ..., moderate intra-uterine growth retardation; birth 36w; language/speech delay, 24-30m-first words; motor delay, 24-30m-first steps; no autism spectrum disorder; short attention span; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; moderate global developmental delay; moderate global developmental delay; short attention span; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; proportionate tall stature; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, NG fed 5 days; gastroesophageal reflux, gaviscon prescribed; no constipation; no skin hyperlaxity; no genitourinary abnormalities 1 1 Johan den Dunnen
00435519 Pat42 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 37w; language/speech delay, 24-30m-first words; motor delay, 19m-first steps; autism spectrum disorder; no behavior problems; uses psychiatric drugs, prozac for first 14 weeks; no sleep disturbances; developmental regression; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, NG fed 5 days; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; café-au-lait spot 1 1 Johan den Dunnen
00435520 Pat45 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, maternal grandfather has epilepsy (no learning difficulties), maternal uncle has mild learning difficulties M - - - - - - - NDD see paper; ..., pregnancy polyhydramnios, elective c-section; birth 39/40w; language/speech delay, 18m-first words; motor delay, 27m-first steps; intellectual disability; no autism spectrum disorder; behavior problems; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; flat feet with broad base but otherwise normal gait; 0.5cm bony prominence at level of xiphoid process (no pectus deformity); strawberry neavus was present at back of neck with no other skin lesions or freckling;  frontal bossing with deep-set elanguage/speech delay and low-set posteriorly-rotated ears.; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism 1 1 Johan den Dunnen
00435521 Pat46 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 37/40w; language/speech delay, >36m-first words; motor delay, 24m-first steps; intellectual disability; no autism spectrum disorder; no behavior problems; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy, EEG normal; hypotonia; no spasticity, 9y-still unsteady; MRI brain normal; no syndactyly; no vertebral abnormalities; one hand very enlarged, pes planus; no pectus excavatum; broad mouth with large tongue, short nose, upturned earlobes, extra niple; no lip/cleft palate; no hypermetropia/myopia; no strabismus; left ptosis; normal hearing; no congenital heart disease; gagging during infancy; hypoglyceamia for 1/12 1 1 Johan den Dunnen
00435522 Pat47 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives F - - - - - - - NDD see paper; ..., pregnancy ventouse, induced; birth 42w; language/speech delay, 12m-first words, abnormal speech pattern, poor understanding and attention; motor delay, 21m-first steps; intellectual disability; autistic-like features, hand flapping, mouthing and repetitive mannerisms, difficulties with language and socialising but also some features not in keeping with autism spectrum disorder, desire to include other people in her experiences and demonstration of empathy; rigid behaviour; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; EEG non-specific; joint hypermobility; no syndactyly; flat feet; prominent cupids bow, vanishing lateral vermillion borders, large ears, slightly deep-set elanguage/speech delay, proominent chin, small widely spaced teeth and high-arched palate.; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities 1 1 Johan den Dunnen
00435523 Pat48 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 38w; language/speech delay, 24m-first words; motor delay; learning difficulties; autism spectrum disorder; ADHD, aggressive behavior; no psychosis/schizophrenia; uses psychiatric drugs,methylphenidat; sleep disturbances; problems in social interaction; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism 1 1 Johan den Dunnen
00435524 Pat51 PubMed: Rots 2023 - M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 41w; no motor delay; no intellectual disability; autism spectrum disorder; ADHD; no psychosis/schizophrenia; no sleep disturbances; seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no congenital heart disease 1 1 Johan den Dunnen
00435525 Pat52 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., language/speech delay; no intellectual disability; autism spectrum disorder; 1 1 Johan den Dunnen
00435526 Pat53 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., language/speech delay; no intellectual disability; autism spectrum disorder; 1 1 Johan den Dunnen
00435527 Pat55 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., language/speech delay; no intellectual disability; autism spectrum disorder; 1 1 Johan den Dunnen
00435528 Pat56 PubMed: Rots 2023 - F - - - - - - - NDD see paper; ..., language/speech delay; no motor delay; no intellectual disability; autism spectrum disorder; ADHD; no psychosis/schizophrenia; depression; abnormal eating behaviour; 3y-no eye contac; no interest in socializing with others; echolalia; OCD; seizures/epilepsy; strabismus; no congenital heart disease; 1 1 Johan den Dunnen
00435529 Pat57 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 38w; language/speech delay; no intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no seizures/epilepsy; no dystonia; PVL due to prematurity (born 32w6/7); no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; coccygeal dimple; no dysmorphic features; no lip/cleft palate; strabismus; normal hearing; left aortic arch with normal branching pattern lsvc to corory sinus, partially anomalous pulmonary veins, right superior VE cava to right atrium, sinus venosus septal defect, superior type, screener diagnosis SVASD; meatal stenosis; no cryptorchidism 1 1 Johan den Dunnen
00435530 Pat60 PubMed: Rots 2023 - M - - - - - - - NDD see paper; ..., language/speech delay, 27m-first words; motor delay, 14m-first steps; autism spectrum disorder; no behavior problems; coordination issues; 1 1 Johan den Dunnen
00435531 Pat61 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., mild language/speech delay; autism spectrum disorder; 1 1 Johan den Dunnen
00435532 Pat62 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., language/speech delay, 24m-first words; motor delay, 16m-first steps; no intellectual disability; autism spectrum disorder; no behavior problems; no vertebral abnormalities; 1 1 Johan den Dunnen
00435533 Pat63 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no language/speech delay; no intellectual disability; autism spectrum disorder; behavior problems; hypotonia; tics; constipation; 1 1 Johan den Dunnen
00435534 Pat65 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives F - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 40w; language/speech delay, 48,m-first words, regular lallation was reported., 4y-irst understandable words, 5y-articulated sentence; motor delay, 24m-first steps; mild intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; <1y-sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain multiple focal areas of altered signal, mostly subcortical, especially in the bilateral frontal area, thinning of corpus callosum, diilation of the Virchow-Robin perivascular spaces; no joint hypermobility; no syndactyly; no vertebral abnormalities; slightly broad and valgus first toe; no pectus excavatum; high forehead, slightly straight eyebrows, slightly sunken elanguage/speech delay, prominence of supraorbital arches, horizontal nystagmus, chin dimple, retrorotated ears, with slightly protruding helix, prominent nasal bridge, lips fairly fleshy; no lip/cleft palate; hypermetropia, astigmatism; no strabismus; horizontal nystagmus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; 1 1 Johan den Dunnen
00435535 Pat67 PubMed: Rots 2023 2-generation family, affected mother/son M - - - - - - - NDD see paper; ..., pregnancy toxoplasma seroconversion; birth 38w; language/speech delay, 24m-first words; motor delay, 24m-first steps; no intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; stereotypic behaviors (flapping, rubbing ears, hitting his thighs); no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain external hydrocephalus; distal joint hypermobility; no syndactyly; thoracic kyphosis without vertebral defect; flat feet; no pectus excavatum; high forehead, downslanting palpebral fissures, slightly sunken elanguage/speech delay, chin dimple, downturned corners of mouth, fleshy lips, prominent ear lobes; no lip/cleft palate; mild hypermetropia (+1D); no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; inguinal lentigines; 1 2 Johan den Dunnen
00435536 Pat68 PubMed: Rots 2023 mother F - - - - - - - NDD see paper; ..., language/speech delay; mild motor delay, 18m-first steps; no intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; joint hypermobility (recurvatum knees and elbows); no syndactyly; no vertebral abnormalities; flat feet; no pectus excavatum; no dysmorphic features; no lip/cleft palate; mild myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; cafe au lait spots; 1 1 Johan den Dunnen
00435537 Pat70 PubMed: Rots 2023 2-generation family, unaffected non-carrier mother, no affected relatives M - - - - - - - NDD see paper; ..., birth 41w; language/speech delay, 48m-first words; no motor delay, 11m-first steps; no autism spectrum disorder; hyperactivity; no psychosis/schizophrenia; no use psychiatric drugs; sleep disturbances, uses melatonine; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; 3y10m-MRI brain normal; joint hypermobility; no syndactyly; no pectus excavatum; midface hypoplasia, sparse in eyebrow, deeply set elanguage/speech delay, wide, short nose, short philtrum, wide mouth, everted lips, anteverted nares; no lip/cleft palate; hypermetropia; recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; 1 1 Johan den Dunnen
00435538 Pat71 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 37w; language/speech delay, 36m-first words; motor delay, 18m-first steps; mild intellectual disability; autism spectrum disorder; behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; gross motor impairment, slight balance disturbance; MRI brain symmetrical and bilateral blurred T2 signal hyperintensity in supra- and retrotrigonal WM, widespread expansion subarachnoid liquor spaces in the interhemispheric site, fronto-temporal convexity and temporopolar areas; joint hypermobility; no syndactyly; no vertebral abnormalities; thickened fingers, shortness nail bed first and second fingers and toes; no pectus excavatum; prominent forehead, deep set elanguage/speech delay, sparse eyebrows, uplifted earlobes, protruding ears, flat philtrum, everted upper and lower lips; no lip/cleft palate; mild hypermetropic astigmatism; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; 1 1 Johan den Dunnen
00435539 Pat72 PubMed: Rots 2023 family, has affected mother and 3 siblings M - - - - - - - NDD see paper; ..., birth at term; language/speech delay, 36m-first words; motor delay, 24m-first steps; no intellectual disability; no autism spectrum disorder; ADHD; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; MRI brain normal; no vertebral abnormalities; no pectus excavatum; prominent forehead, short nose, low-sett, protruding ears, downslanted eyelids; no lip/cleft palate; strabismus; no cryptorchidism; 1 1 Johan den Dunnen
00435540 Pat73 PubMed: Rots 2023 family, has father M - - - - - - - NDD see paper; ..., bleeding in early pregnancy; birth at term; language/speech delay; motor delay; mild intellectual disability; autism spectrum disorder; attention deficit; hypotonia; joint hypermobility; simian crease, short thumbs, fetal pads, pes planovalgus; no pectus excavatum; hip dysplasia; hypertelorism, microcephaly, small chin, protruding ears; no lip/cleft palate; mild hypermetropic astigmatism; normal hearing; 1 1 Johan den Dunnen
00435541 Pat74 PubMed: Rots 2023 family, father and affected son M - - - - - - - NDD see paper; ..., language/speech delay; learning difficulties; no pectus excavatum 1 1 Johan den Dunnen
00435542 Pat75 PubMed: Rots 2023 no affected relatives M - - - - - - - NDD see paper; ..., no language/speech delay; motor delay, 24m-first steps; impulsive; no sleep disturbances; hypotonia; kyphosis; pes planus; no pectus excavatum; prominent forehead, midface hypoplasia, macrocephaly; no lip/cleft palate; 1 1 Johan den Dunnen
00435543 Pat76 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives F - - - - - - - NDD see paper; ..., birth 41w+5d; language/speech delay; motor delay, 30m-first steps; no intellectual disability; no autism spectrum disorder; no use psychiatric drugs; obstructive and central sleep apnea; no seizures/epilepsy; hypotonia; no dystonia; MRI brain paracerebellar ventricular enlargement; joint hypermobility; no syndactyly; genu valgum, short toe nails, pes planus et valgus; recurrent patella luxation, temporary hemiepiphysiodesis distal femur medial left; wide nose, full cheeks, epicanthus in infancy; no lip/cleft palate; astigmatism; neonatal feeding difficulties; partial alopecia at sagittal suture; neonatal CMV infection; lactose intolerant; 1 1 Johan den Dunnen
00435544 Pat77 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., induction of labor at 40 w for reduced fetal movements; birth 40w; no language/speech delay, 48m-first words; no motor delay, 18m-first steps; intellectual disability; autism spectrum disorder; no behavior problems; no use psychiatric drugs; sleep disturbances; seizures/epilepsy, drug resistant epilepsy: general and focal seizures; with currently 1 event per month on oxacarbazepine + clobazam; no hypotonia; no dystonia; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; flat feet; no pectus excavatum; prominent forehead, synophrys, deeply sett elanguage/speech delay,wide nose with prominent bridge, wide mouth, thick lips; no lip/cleft palate; hypermetropia; strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; 1 1 Johan den Dunnen
00435545 Pat82 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives F - - - - - - - NDD see paper; ..., induction of labor a37/40w for reduced fetal movements, born in good condition (Apgar scores 7 and 8); 1d-deteriorated, severe pulmonary HTn (see cardiac); birth 37w; language/speech delay, no words as yet, speech therapy starting on signing; motor delay, 17m-sit, not walking; sleep disturbances, poor sleep, frequent waking for prolonged periods of time; 17m-inconsistently responds to own name (normal audiology), sensory seeking, mostly happy baby; seizures/epilepsy newborn period after neurological insult from hypoperfusion, has been off AEDs for >1y and remains seizure free; hypotonia; no dystonia; no spasticity; unusual posturing of arms, although not dystonic as per neurologist assessment; MRI brain no structural anomalies; 5d-MRI showed multiple punctate bilateral frontoparietal white matter T1 hyperintensities compatible with microhemorrhages, bilateral posterior fossa and parieto-occipital subdural haematomas with subgaleal haematomas, possibly birth-related; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; 17m-will not weight bare through legs; tall forehead, deep set elanguage/speech delay, medially spares eyebrows, short nose, full cheeks, down turned corners of the mouth .; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; congenital cardiac disease, disconnected right pulmonary artery (supplied by a PDA), surgically reconnected (implantation of right pulmonary artery, ligation of PDA), pulmonary aftery restenosed, 4m-balloon dilatation, restenosed again, 8m-stent angioplasty, restenosed again- arterial conduit graft is planned.; 2w-CT-angiogram abnormal abdominal vasculature including marked narrowing and some irregularity of the distal abdominal aorta, iliac & common femoral vessels with short segments of high-grade or complete stenosis of both common femoral arteries. Narrowing of the major abdominal aorta visceral branches, particularly renal arteries and possibly to a lesser extent the hepatic artery and coeliac axis was noted.; neonatal feeding difficulties; regular vomiting as an infant; constipation; no skin hyperlaxity; kidneys <5th centile in size for age; telangiectatisia on face and chest; 1 1 Johan den Dunnen
00435546 Pat83 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., bleeding in early pregnancy, second empty sac on scan; birth 39w; language/speech delay, 12m-first words, then regressed with speech; motor delay, 18m-first steps; intellectual disability; moderate-severe autism spectrum disorder; attention deficit; no psychosis/schizophrenia; no use psychiatric drugs; sleep disturbances, uses melatonin; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; initial very broad based gait; MRI brain normal; joint hypermobility; no syndactyly; no vertebral abnormalities; pes planus; no pectus excavatum; wide tented mouth, capillary haemangioma over glabella, broad nasal tip; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; recurrent ear infections; grommets/Ts and As removed, bilateral preauricular pits; no congenital heart disease; neonatal feeding difficulties; gastroesophageal reflux; no constipation; no skin hyperlaxity; bilateral cryptorchidism; inguinal hernia (left); 1 1 Johan den Dunnen
00435547 Pat84 PubMed: Rots 2023 family, has father M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 39w+1d; language/speech delay, babbling but no first words yet; motor delay, not walking; no behavior problems; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; torticollis, lingual frenulum; prominet forehead and nasal roo, pprominent ears; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; 1 1 Johan den Dunnen
00435548 Pat85 PubMed: Rots 2023 family, father and affected son M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 39w; language/speech delay, 24m-first words; 14m-first steps; learning disability in special education classes in school; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; prominet forehead and nasal root, prominent ear, deep set elanguage/speech delay; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; tinnitus; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no cryptorchidism; hypertension; 1 1 Johan den Dunnen
00435549 Pat4 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth >38w; 30m-first words; motor delay, 22m-first steps; moderate intellectual disability; autism spectrum disorder; ADHD; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain assymetric hyppocampus;, lightly delayed myelinisation; no syndactyly; no vertebral abnormalities; no pectus excavatum; deep set elanguage/speech delay, flat nasal bridge, full eyebrows, macrodontia, big mouth, almond shaped palpebral fissures, low set ears; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no congenital heart disease; no genitourinary abnormalities; no cryptorchidism; 1 1 Johan den Dunnen
00435550 Pat10 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 39w; language/speech delay, no speech; motor delay, >24m-first steps; autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; global developmental delay; bruxism; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; mild joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; relative macrocephaly, high, bossed forehead, mild overfolding of superior helices, , micrognathia, glossoptosis; cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no congenital heart disease; neonatal feeding difficulties; no gastroesophageal reflux; no constipation; feeding difficulties with solid foods; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; 1 1 Johan den Dunnen
00435551 Pat34 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 41w; language/speech delay, normal age first words; motor delay, 24m-first steps; mild intellectual disability; autism spectrum disorder; ADHD; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; mild dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; 1 1 Johan den Dunnen
00435552 Pat38 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., maternal hypertension, placenta insufficiency; birth 40w+1d; language/speech delay; motor delay, 30m-first steps; no intellectual disability; autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain normal; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; soft skin; synophris, broad forehead, long uvula.; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, difficulties with breast feeding; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; hypotonia/hyperlaxity was that severe a muscle panel was performed; CK normal; 1 1 Johan den Dunnen
00435553 Pat44 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives F - - - - - - - NDD see paper; ..., 1st and 2nd trimester bleeding; birth 28w; language/speech delay, 24-30m-first words; motor delay, 18m-first steps; no intellectual disability; no autism spectrum disorder; hyperactivity; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; malar flattening, prominent forehead, upslanted palpebral fissure; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, NG fed for 6 weeks and 84 day SCBU / NICU stay but premature; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; ketosis; 1 1 Johan den Dunnen
00435554 Pat49 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, no affected relatives M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 40+/-2w; language/speech delay, 18m-first words; motor delay, 18m-first steps; no intellectual disability; autism spectrum disorder; no behavior problems; enuresis; 1 1 Johan den Dunnen
00435555 Pat50 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents, family, aunt (from maternal side) had anorexia nervosa, her son Attention-Deficit Disorder M - - - - - - - NDD see paper; ..., no complications pregnancy/delivery; birth 40+/-2w; language/speech delay, <18m-first words; no motor delay, 15m-first steps; no intellectual disability; autism spectrum disorder; 1 1 Johan den Dunnen
00435556 Pat54 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., no language/speech delay; no intellectual disability; autism spectrum disorder; 1 1 Johan den Dunnen
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