All individuals with variants in gene WHSC1

42 entries on 1 page. Showing entries 1 - 42.
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00050680 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - ? intrauterine growth retardation, febrile seizures, feeding difficulties in infancy, microcephaly, global developmental delay, deeply set eye, flat nose, shoulder dimples, skin dimples, macrotia, inverted nipples, pes planus, 2-3 toe syndactyly 1 2 Johan den Dunnen
00080111 27172843-PatSR-KL PubMed: Sachwitz 2016, for EUCID-SRS consortium - M - - - - - - - ?, SRS;RSS prominent forehead (HP:0011220) 1 1 Zeynep Tümer
00288197 Pat7 PubMed: Lee 2019 - - - United States - - - - - ? ankle contracture, areflexia, autistic features, developmental delay, dry skin, flexion contracture, gait disturbance, hip contracture, hyperextensibility, lordotic gait, muscle atrophy, muscle weakness, myopathy, poor eye contact, toe walking 1 1 Johan den Dunnen
00324393 FamPatII1 PubMed: Hu 2020 3-generation family, affected father/daughter M - China - - - - - ? typical facial features, no microcephaly, no prominent glabella, no short philtrum, no micrognathia, no high forehead, abnormal ears, strabismus, hypertelorism, epicanthal folds, no exophthalmos, no ptosis, no nystagmus, no iris coloboma, no corectopia, high-arched eyebrows, wide nasal bridge, no beaked nose, no cleft lip, no cleft palate, downturned corners mouth, abnormal teeth, no webbed neck ; no intrauterine/postnatal growth retardation; intellectual disability/developmental delay; no hypotonia; no decreased muscle bulk; seizures and/or distinctive EEG abnormalities; no feeding difficulties; no skin changes; no skeletal anomalies; no craniofacial asymmetry; no hearing loss; no heart defects; no eye/optic nerve anomalies; no genitourinary tract anomalies; no structural brain anomalies; no stereotypies; no liver anomalies; no gallbladder anomalies; no gut anomalies; no diaphragm anomalies; no esophagus anomalies; no lung anomalies; no aorta anomalies 1 2 Johan den Dunnen
00324394 FamPatIII1 PubMed: Hu 2020 daughter F - China - - - - - ? typical facial features, microcephaly, no prominent glabella, no short philtrum, no micrognathia, no high forehead, abnormal ears, no strabismus, hypertelorism, no epicanthal folds, no exophthalmos, no ptosis, no nystagmus, no iris coloboma, no corectopia, high-arched eyebrows, wide nasal bridge, no beaked nose, no cleft lip, no cleft palate, no downturned corners omouth, abnormal teeth, no webbed neck ; intrauterine/postnatal growth retardation; intellectual disability/developmental delay; no hypotonia; no decreased muscle bulk; no seizures and/or distinctive EEG abnormalities; no feeding difficulties; no skin changes; skeletal anomalies; no craniofacial asymmetry; no hearing loss; no heart defects; no eye/optic nerve anomalies; no genitourinary tract anomalies; no structural brain anomalies; no stereotypies; no liver anomalies; no gallbladder anomalies; no gut anomalies; no diaphragm anomalies; no esophagus anomalies; no lung anomalies; no aorta anomalies 1 1 Johan den Dunnen
00324396 patient PubMed: Wang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - ? typical facial features, no microcephaly, prominent glabella, short philtrum, micrognathia, no high forehead, normal ears, hypertelorism, epicanthal folds, high-arched eyebrows, wide nasal bridge, no beaked nose, no cleft lip, no cleft palate, downturned corners mouth, abnormal teeth, no webbed neck ; intrauterine/postnatal growth retardation; intellectual disability/developmental delay; hypotonia; no seizures and/or distinctive EEG abnormalities; feeding difficulties; skeletal anomalies; no craniofacial asymmetry; no heart defects; no genitourinary tract anomalies; no structural brain anomalies; no liver anomalies; no gallbladder anomalies; no gut anomalies; no diaphragm anomalies; no esophagus anomalies; no lung anomalies; no aorta anomalies 1 1 Johan den Dunnen
00324397 Pat1 PubMed: Derar 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Saudi Arabia - - - - - ? typical facial features, microcephaly, no prominent glabella, short philtrum, micrognathia, no high forehead, abnormal ears, hypertelorism, no epicanthal folds, no exophthalmos, no ptosis, no nystagmus, high-arched eyebrows, wide nasal bridge, no beaked nose, no cleft lip, no cleft palate, downturned corners mouth, abnormal teeth, no webbed neck ; intrauterine/postnatal growth retardation; intellectual disability/developmental delay; hypotonia; no decreased muscle bulk; no seizures and/or distinctive EEG abnormalities; feeding difficulties; no skin changes; no skeletal anomalies; craniofacial asymmetry; no hearing loss; no heart defects; no eye/optic nerve anomalies; no genitourinary tract anomalies; no structural brain anomalies; no stereotypies; no liver anomalies; no gallbladder anomalies; no gut anomalies; no diaphragm anomalies; no esophagus anomalies; no lung anomalies; no aorta anomalies 1 1 Johan den Dunnen
00324398 Pat2 PubMed: Derar 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Saudi Arabia - - - - - ? typical facial features, microcephaly, no prominent glabella, short philtrum, micrognathia, no high forehead, abnormal ears, no hypertelorism, no epicanthal folds, no exophthalmos, no ptosis, no high-arched eyebrows, wide nasal bridge, no beaked nose, no cleft lip, no cleft palate, downturned corners mouth, abnormal teeth, no webbed neck ; intrauterine/postnatal growth retardation; intellectual disability/developmental delay; hypotonia; no decreased muscle bulk; no seizures and/or distinctive EEG abnormalities; feeding difficulties; no skin changes; no skeletal anomalies; craniofacial asymmetry; hearing loss; no heart defects; no eye/optic nerve anomalies; no genitourinary tract anomalies; no structural brain anomalies; no stereotypies; no liver anomalies; no gallbladder anomalies; no gut anomalies; no diaphragm anomalies; no esophagus anomalies; no lung anomalies; no aorta anomalies 1 1 Johan den Dunnen
00324399 patient PubMed: Lozier 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Russia - - - - - ? typical facial features, microcephaly, prominent glabella, no short philtrum, no micrognathia, high forehead, abnormal ears, no strabismus, hypertelorism, epicanthal folds, no exophthalmos, no ptosis, high-arched eyebrows, wide nasal bridge, no beaked nose, no cleft lip, no cleft palate, no downturned corners omouth, abnormal teeth, no webbed neck ; no intrauterine/postnatal growth retardation; intellectual disability/developmental delay; hypotonia; no seizures and/or distinctive EEG abnormalities; skeletal anomalies; no craniofacial asymmetry; liver anomalies; 1 1 Johan den Dunnen
00324400 Pat1 PubMed: Barrie 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - ? see paper; ..., typical facial features, microcephaly, high forehead, abnormal ears; intrauterine/postnatal growth retardation; intellectual disability/developmental delay; hypotonia; no seizures and/or distinctive EEG abnormalities; feeding difficulties; no antibody deficiency; no genitourinary tract anomalies; structural brain anomalies; no liver anomalies 1 1 Johan den Dunnen
00324401 Pat2 PubMed: Barrie 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - ? see paper; ..., typical facial features, microcephaly, wide nasal bridge; intrauterine/postnatal growth retardation; intellectual disability/developmental delay; hypotonia; no seizures and/or distinctive EEG abnormalities; feeding difficulties; skin changes (hemangioma; marble/dry skin); no antibody deficiency; genitourinary tract anomalies; no structural brain anomalies 1 1 Johan den Dunnen
00324402 Pat3 PubMed: Barrie 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - ? see paper; ..., typical facial features, no microcephaly; intrauterine/postnatal growth retardation; intellectual disability/developmental delay; hypotonia; feeding difficulties; stereotypies (hand washing/flapping, rocking) 1 1 Johan den Dunnen
00324403 patient PubMed: Boczek 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States - - - - - ? see paper; ..., typical facial features, no microcephaly, no prominent glabella, no short philtrum, micrognathia, no high forehead, abnormal ears, no strabismus, hypertelorism, epicanthal folds, no exophthalmos, no ptosis, high-arched eyebrows, no wide nasal bridge, no beaked nose, no cleft lip, no cleft palate, no downturned corners omouth, no abnormal teeth, no webbed neck ; intrauterine/postnatal growth retardation; intellectual disability/developmental delay; hypotonia; no seizures and/or distinctive EEG abnormalities; feeding difficulties; no craniofacial asymmetry; no antibody deficiency; no heart defects; stereotypies (hand washing/flapping, rocking); gut anomalies; esophagus anomalies; no lung anomalies 1 1 Johan den Dunnen
00380414 - - - M - - - - - - - ? Microcephaly (HP:0000252); Microretrognathia (HP:0000308); Hypertelorism (HP:0000316); Intellectual disability (HP:0001249); Short stature (HP:0004322) 1 1 IMGAG
00415083 202490 - - F - Germany - - - - - WHS Global developmental delay, Axial hypotonia, Failure to thrive, Microcephaly, Short stature, Retrognathia, Omphalocele, Elevated circulating creatine kinase concentration, Epicanthus 1 1 Andreas Laner
00415392 Pat1-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents M no - white - - - - NDD 41w-birth spontaneous vaginal, length 45cm (-3.52), weight 2480g (-2.79); intrauterine growth retardation; at age 1y failure to thrive; height 164.5cm (-1.56), weight 45.4Kg (-2.78), OFC 55cm (-1.34), BMI 16.8 (-2.3); delayed bone age (9,25y at 10y6m); learning difficulties (IQ: 78-81); 19m-walk; >4y-toilet trained; autonomous in all daily activities; delayed speech, later no speech impairment; trains as a horticolturis, before received support at school; no autistic features; 11y-psychological support because of suicidal thoughts related to poor scholastic performance, otherwise happy, social; no sleep disturbances; no seizures; normal muscle tone, 26m-hypotonia; no hearing loss; minor refraction defect, does not wear glasses; no pulmonary abnormalities; no cardiovascular abnormalities; neonatal feeding difficulties; no genitourinary abnormalities; no endocrinological abnormalities; no metabolic abnormalities; no immunological abnormalities; pectus excavatum, scapulae alatae, mild scoliosis, flat feet, prominent knees, broad forefeet, bilateral clinodactyly 5th toe; triangular face, broad forehead, protruding ears, high arched palate; dental crowding, succesfully treated with braces, high arched palate 1 1 Johan den Dunnen
00415393 Pat2-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents M no - white - - - - NDD 39w-, length 48cm (-1.7), weight 2390g (-2.53), OFC 32cm (-2.54); small for gestational age (approx. 3rd percentile), increase nucal translucency, neonatal hyperbilirubinemia (phototherapy), failure to thrive neonatal period; height 75.7cm (-4.13), weight 8.84Kg (-3.05), OFC 46.5cm (-2.71), BMI 15.4 (-0.42); delayed bone age (20m at 2y2m); 16m-walk; not toilet trained; dependent for all cares; 24m-first words, speaks 5-6 words; attends playgroup; no autistic features; happy, social; no sleep disturbances; no seizures; no hypotonia; frequent airway infections; mild peripheral stenosis of the left pulmonary artery; tendency to constipation; left renal agenesis, right kidney normal in shape and function; no endocrinological abnormalities; increased plasma methylmalonic acid (up to >9x upper limit); no immunological abnormalities; no skeletal/limb abnormalities; broad and prominent forehead, a bulbous tip of the nose, retrognathia, low set posteriorly rotated ears 1 1 Johan den Dunnen
00415394 Pat3-I PubMed: Zanoni 2021 - F no - white - - - - NDD 40w-birth spontaneous vaginal, length 48 cm (-1.68), weight 2170 g (-3.09); hypotonia, failure to thrive; height 148cm (-2.28), weight 60Kg (+0.24)/ OFC: 48.5cm (-6.34), BMI 27.4 (1.59); severe intellectual disability; 8m-sit; 14m-stand; 18m-walk; not toilet trained; dependent for all cares; delayed speech, can speak few words and sing songs; not scholarized; autistic features; happy, <20y-aggressive; no sleep disturbances; no seizures; 35y-MRI brain/spinal normal; hypotonia; no hearing loss; bilateral keratoconus, retinitis pigmentosa, optic atrophy, 32y-corneal transplant; no pulmonary abnormalities; no cardiovascular abnormalities; constipation; no genitourinary abnormalities; no endocrinological abnormalities; no metabolic abnormalities; no skeletal/limb abnormalities; high forehead, deeply set eyes, bulbous tip of the nose, short philtrum, prominent upper central incisors 1 1 Johan den Dunnen
00415395 Pat4-I PubMed: Zanoni 2021 adopted M - Bulgaria white - - - - NDD 30w-birth spontaneous vaginal,; had chest tubes after birth; height 99cm (-3.44), weight 12Kg (-4.37)/ OFC: 44cm (-6.3), BMI 12.2 (-2.88); severe intellectual disability (estimated IQ: 20-30); ~60m-walk; not toilet trained; dependent for all cares; ~60m-first words, no expressive or receptive speech; special education; sensory defensiveness, hand flapping; affectionate, anxious; no sleep disturbances; no seizures; MRI brain/spinal normal T2 hyperintensity and volume loss periatrial white matter; hypotonia; venous sinus thrombosis, treated and resolved; no hearing loss; exotropia; suspected pneumothorax in neonatal period; no cardiovascular abnormalities; severe feeding difficulties, fed via gastrostomy, recurrent vomits; no genitourinary abnormalities; no endocrinological abnormalities; no metabolic abnormalities; no skeletal/limb abnormalities; dolichocephaly, high forehead, bushy eyebrows, exotropia, a prominent tip of the nose, low-set ears, widely spaced prominent eyes; Severe failure to thrive 1 1 Johan den Dunnen
00415396 Pat5-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents F no Jordan;Syria - - - - - NDD 37w-induced vaginal delivery secondary to fetal decelerations, weight 1980g (-2.28); intrauterine growth retardation, pregancy sustained with ASA and heparin due a to pregnancy associated disorder similar to Factor V deficiency; height 105.2 cm (-0.89), weight 13.01 kg (-2.41), OFC 48 cm (-2.2), BMI 11.8 (-2.88); mild intellectual disability; 6m-social smile; 9m-roll-over; 12m-sit; 15m-stand; 18m-walk; 4y6m-not toilet trained; able to dress and feed self; 30m-first words, now normal speech; special pre-school, poor retention and difficulty following 2 step directions; no autistic features; mostly happy demeanor, social, tendency to overreaction, temper tantrums, short attention span, easily distracted, fidgety, restless, talks excessively, interupts others, hyperactive; intermittent insomnia, occasional gasping for breath while sleeping; no seizures; 28m-MRI brain 8mm pineal cyst, 50m-MRI brain non-specific mild diffuse T2/FLAIR signal hyperintensity in the bilateral parietal and occipital white matter, 50m-MRI spinal small thoracic spinal cord syrinx (ddx prominence of the central canal); previously diagnosed with hemiplegic infantile cerebral palsy, 4y-tone was symmetric; failed newborn OAE and follow up testing, 9m-ABR normal; no ophthalmological abnormalities; <4m-history of silent aspiration; non hemodynamically significant small PFO, ECG with left axis deviation amd normal sinus ryhthm; 1d-feeding difficulties, 4m-refusing oral feeds; swallowing study revealed silent aspiration and NG tube was placed, followed by G-tube 13m; stomach dumping syndrome; no genitourinary abnormalities; 15m-signs of precocious puberty, non-progressive, with normal endocrine evaluation; no metabolic abnormalities; severe allergic reation to latex; no skeletal/limb abnormalities; triangular face, high forehead, high anterior hairline, prominent nasal root, widely spaced eyes 1 1 Johan den Dunnen
00415397 Fam1Pat6-I PubMed: Zanoni 2021 3-generation family, 7 affected (3F, 4M) M no - white - - - - NDD 41w 2/7-birth spontaneous vaginal, length 49cm (-1.83), weight 3410g (-0.84), OFC 38.2cm (1.5); mild neonatal hypotonia; height 133.5cm (-1.05), weight 26.3Kg (-1.33), OFC 53cm (-0.61), BMI 14.8 (-1.29); delayed bone age (32m at 51m); mild intellectual disability; 3m-social smile; 10m-sit; 24m-stand; 37m-walk; 3y6m-toilet trained; 7y-autonomous for dressing and feeding; 36m-first words, Pronunciation difficulties; special school, learning level 6y at 10y; no autistic features; happy, not aggressive; no sleep disturbances; no seizures; 10y-persistant axial and peripheral hypotonia; fine motor coordination difficulties; no hearing loss; no ophthalmological abnormalities; no pulmonary abnormalities; no cardiovascular abnormalities; no gastrointestinal abnormalities; 1y-bilateral cryptorchidism, 1y-1 testis surgically removed (atrophic); no endocrinological abnormalities; no metabolic abnormalities; bilateral 5th finger clinodactyly, pes planus; triangular face, large and high forehead, small pointed chin, short and upslanted palpebral fissures, mild hypotelorism arched eyebrows, small joints hyperlaxity, overlapping 1st and 2nd toes; Nasal voice, joint hyperlaxity 1 7 Johan den Dunnen
00415398 Fam1Pat6-II PubMed: Zanoni 2021 father M no - white - - - - NDD ,; height 162cm (-1.89), OFC 56,5 (-0.35); mild intellectual disability (IQ: 52); 18m-walk; special school, difficulties to read and write; no autistic features; happy, not aggressive; no sleep disturbances; no seizures; mild hypotonia; no hearing loss; no ophthalmological abnormalities; no pulmonary abnormalities; no cardiovascular abnormalities; no gastrointestinal abnormalities; no genitourinary abnormalities; no endocrinological abnormalities; no metabolic abnormalities; no skeletal/limb abnormalities; triangular face, early temporal baldness, arched eyebrows, hypotelorism, retrognathia; Nasal voice 1 1 Johan den Dunnen
00415399 Fam2Pat7-I PubMed: Zanoni 2021 2-generation family, affected mother/daughter/son F no - white - - - - NDD 40w-birth spontaneous vaginal, length 48cm (-1.68), weight 2940g (-1.26); no pre-/perinatal issues; height 139cm (-1.06), weight 34.6Kg (-0.49), OFC 48,9cm (-3.72), BMI 17.9 (0.21); mild intellectual disability; 2m-social smile; 6m-roll-over; 8m-sit; 18m-walk; <5y-toilet trained; 18m-first words; special education classes, occupational therapy, speech therapy; no autistic features; ADHD, aggressive behaviour; no sleep disturbances; no seizures; 2y6m-MRI brain/spinal normal; mild hypotonia in early infancy; no hearing loss; no ophthalmological abnormalities; no pulmonary abnormalities; no cardiovascular abnormalities, normal US; no gastrointestinal abnormalities; no genitourinary abnormalities, normal renal US; no endocrinological abnormalities; normal metabolic workup; cutaneous incomplete syndactyly toes 2-3 bilaterally (as in father); small epicanthal folds bilaterally, posteriorly rotated simplified ears with hypoplasia of lower 2/3 of helices, short nose, thin upper lip, inverted nipples; Multiple teeth capped due to severe decay 1 3 Johan den Dunnen
00415400 Fam2Pat7-II PubMed: Zanoni 2021 son M no - white - - - - NDD 40w-birth C-section (anamnestic), weight 2800g (-1.87); no pre-/perinatal issues; height 122cm (-0.86), weight 18.8Kg (-2.22), OFC 49cm (-2.95), BMI 12.6 (-2.72); delayed bone age; mild intellectual disability; 1m-social smile; 6m-roll-over; 8m-sit; 15m-walk; <3y-toilet trained; 18m-first words, pronunciation difficulties; special education classes, speech therapy; no autistic features; ADHD; no sleep disturbances; no seizures; mild hypotonia in early infancy; no hearing loss; no ophthalmological abnormalities; no pulmonary abnormalities; no cardiovascular abnormalities; no gastrointestinal abnormalities; no genitourinary abnormalities; no endocrinological abnormalities; normal metabolic workup; normal immunoglobulin levels; 11 ossified ribs and 6 non rib-bearing lumbar vertebrae, cutaneous incomplete syndactyly toes 2-3 bilaterally (as in father); thin body habitus, triangular face, broad forehead, broad nasal bridge, mild posterior rotation of ears, small ear lobes 1 1 Johan den Dunnen
00415401 Pat8-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents F no - white - - - - NDD 38w 2/7-birth C-section, weight 2630g (-1.7); 20gw-intrauterine growth retardation; height 73cm (-2.01), weight 7.9Kg (-1.83), OFC 43,8cm (-2.59), BMI 14.8 (-1.04); delayed bone age; turned only once at 6m; 17m-walking while holding on to table; not toilet trained; dependent for all cares; initially poor eye contact, later improved; content, quiet; no seizures; 10m-MRI brain/spinal normal; mild hypotonia; no hearing loss; no ophthalmological abnormalities; no cardiovascular abnormalities, normal US and ECG (anamnestic); neonatal feeding difficulties, gastro-esophageal reflux; no genitourinary abnormalities, normal external genitalia; basic metabolic test was negative; no skeletal/limb abnormalities; mild synophrys, upwards slanting palpebral fissures, 1 café au lait spot 1 1 Johan den Dunnen
00415402 Pat9-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents F no - white - - - - NDD 42w-birth induced spontaneous vaginal, weight 2770g (-1.93); 40gw-extra cardiac systole; height 123,5cm (-2.22), weight 21,4Kg (-2.07), OFC 51cm (-1.3), BMI 14 (-1.52); 9y10m-mild intellectual disability (IQ: 69); 30m-walk; special education; no autistic features; short attention span, no abnormal personality traits; no sleep disturbances; no seizures; no hypotonia; no hearing loss; strabismus divergens of left eye; no pulmonary abnormalities; no cardiovascular abnormalities; <14d-feeding difficulties, weaning was problematic; no genitourinary abnormalities; no endocrinological abnormalities; metabolic tests negative; 5th finger clinodyktyly; thin hair, coarse facial features, upward slant of palpebral fissures, mild hypertelorism, iris stellatae, low broad nasal bridge, elevated philtrum, widely spaced small teeth, broad mouth with full lips, tapering fingers, joint hyperlaxity (Beighton score 6/8); Joint hyperlaxity; 1 cafe au lait spot; dental abnormalities 1 1 Johan den Dunnen
00415403 Pat10-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents M no - white - - - - NDD 41w5/7-birth spontaneous vaginal, weight 2720g (-2.32); olygohydramnion, flexion contratures of feet, knees and elbows, conservatively treated succesfully; height 147,5cm (-0.45), weight 43Kg (0.16), OFC 53,4cm (-0.83), BMI 19.8 (0.84); mild intellectual disability (IQ: 50-60); 12m-sit; 17m-walk; toilet trained; normal self-care; started late to speak, now speech near normal; special education; autistic features; obsessive behaviour, rituals, attention deficit; no sleep disturbances; 1y-multiple fever-related convulsions, <5y-myoclonic absences, EEG abnormalities, good response on medication, 8y-seizure-free; 2y10m-MRI brain/spinal normal; no hypotonia; no hearing loss; no ophthalmological abnormalities; no pulmonary abnormalities; no cardiovascular abnormalities; feeding difficulties; phimosis; no endocrinological abnormalities; no metabolic abnormalities; pes planus; thin upper lip, mild shawl scrotum 1 1 Johan den Dunnen
00415404 Pat11-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents M no - white - - - - NDD 38w-birth C-section, length 42cm (-3.96), weight 2195g (-2.56); intrauterine growth retardation from 30w onwards, placenta bilobata; height 78cm (-1.58), weight 8,8Kg (-1.95), OFC 46,3cm (-1.85), BMI 14.5 (-1.61); 4m-social smile; 9m-roll-over; 10m-sit; 15m-stand; 21m-walk; not toilet trained; no self-care; 23m-first words, 24m-few words; no autistic features; normal behaviour; regularly awakens crying during the night; no seizures, 4m-negative EEG; 4m-MRI brain/spinal normal; no hypotonia; no hearing loss; no ophthalmological abnormalities; recurrent airway infections; no cardiovascular abnormalities; feeding difficulties; no genitourinary abnormalities; no endocrinological abnormalities; no metabolic abnormalities; low levels of IgA and IgG3; no skeletal/limb abnormalities; prominent forehead, mild epicanthus 1 1 Johan den Dunnen
00415405 Pat12-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents M no - white - - - - NDD 40w-birth spontaneaous vaginal, length 53cm (0.22), weight 4250g (1.42), OFC 38cm; gestational hypertension; delivery complicated because of large head circumference/ dolicocephaly. Icterus neonatorum; height 179.5cm (0.45), weight 82.4Kg (1), OFC 60cm (1.96), BMI 25.6 (1.18); mild intellectual disability (IQ~65); 16m15d-walk; independent self-care; normal speech; started at regular primary school, switched to special education, now graphic designer at special workplace for individuals with disabilities; prominent autistic features, 23y-diagnosis autism spectrum disorder; anxiety disorder, otherwise happy, friendly, social; no sleep disturbances; no seizures; both hypertonia and hypotonia reported in infancy and childhood; balance problems, clumsiness, often headache (migraine-like); recurrent otitis externa, no hearing loss; mild hypermetropia, wears glasses; no pulmonary abnormalities; no cardiovascular abnormalities; constipation in history. had appendicitis, no other abnormalities; no genitourinary abnormalities; craniosynostosis, 6m-corrective surgery, severe artrosis in knee ( always wears brace) and in wrist, jaw joint problems; Congenital bilaterial inguinal hernia 1 1 Johan den Dunnen
00415406 Pat13-I PubMed: Zanoni 2021 - M no United Kingdom (Great Britain) Trinidad - - - - NDD 41w-birth C-section for failure to progress, length 48.2cm (-2.13), weight 3350g (-0.86), OFC 35cm (-0.69); 1d-briefly experienced respiratory issues, 3d-discharged from hospital; height 108cm (-1.61), weight 14.4Kg (-2.8), OFC 50cm (-1.66), BMI 12.3 (-2.76); delayed bone age; 6y6m-no intellectual disability (IQ: 89); 9m-sit; 15m-walk; delayed self-care due to fine motor difficulties; 15m-first words, speech delay long-term problem; attends second grade with extra assistance, working at kindegarden to 1st grade level for reading and math; hand flapping when excited; happy, appropriatedly social; sleep disturbances, wakes up most night despite taking melatonin; no seizures, negative EEG; 2y6m NRI brain normal except for few small areas of gliosis in the frontal and periatrial area; hypotonia; no hearing loss; mild myopia; no pulmonary abnormalities; no cardiovascular abnormalities; feeding difficulties; no genitourinary abnormalities; no endocrinological abnormalities; no metabolic abnormalities; no skeletal/limb abnormalities; triangular face shape, broad forehead, wide set eyes with horizontal palpebral fissures, slightly protruding ears, slightly short philtrum, mild micrognathia; Hypoplasia of the primary dental enamel; several dental implants due to cavities 1 1 Johan den Dunnen
00415407 Pat14-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents F no - white - - - - NDD 40w-birth spontaneaous vaginal, length 45cm (-3.05), weight 2600g (-2.07), OFC 32cm (-2.23); intrauterine growth retardation, diagnosed in the 3rd trimester; height 121.5cm (-1.5), weight 18.8Kg (-2.12), OFC 49.3cm (-2.44), BMI 12.7 (-2.29); learning difficulties; 1y6m-social smile; 9m-sit; 19m-walk; 5y-toilet trained; can dress but has difficulties to tie shoes; 36m-first words, speech delay long-term problem, can read; attends regular school, difficulties with mathematics and logic; no autistic features; shy; no sleep disturbances; no seizures, 4y5m-negative EEG; 4y5m-MRI brain normal; generalized hypotonia; no hearing loss; mild myopia, astygmatism; no pulmonary abnormalities; no cardiovascular abnormalities; feeding difficulties, 6m-fed with NG tube, 4y8m-received gastrostomy, constipation; no genitourinary abnormalities; no metabolic abnormalities; no skeletal/limb abnormalities; relative short and smooth philtrum, micrognathia, dental diastema, protruding ears, increased protusion of the inferior crus (relative to the prominence of the antihelix stem), everted antitragus, small earlobe; Dental enamel hypoplasia; low level of zinc and iron due to denutrition in infancy 1 1 Johan den Dunnen
00415408 Pat15-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents M no - white - - - - NDD 38w-birth C-section, length 38cm (-5.7), weight 2312g (-2.29), OFC 32cm (-2.07); intrauterine growth retardation; height 104cm (-0.36), weight 15Kg (-0.98), OFC 50cm (-1.05), BMI 13.9 (-1.16); mild intellectual disability; <6m-roll-over; 12m-sit; 17m-stand; 20m-walk; not toilet trained; autonomous for feeding and drinking; 4y4m 3-4 words; poor eye contact; shy, hyperactive; no sleep disturbances; no seizures, 4y4m-EEG showed epileptic activity in absence of clinical seizures; 2y3m-MRI thin corpus callosum, white matter lesions; hypotonia; no hearing loss; no ophthalmological abnormalities; no pulmonary abnormalities; no cardiovascular abnormalities; no gastrointestinal abnormalities; hydronephrosis left, hypospadia; no endocrinological abnormalities; no metabolic abnormalities; 5th finger clinodyktyly; triangular face, prominent forehead, upslanted palpebral fissures, micrognathia; Cleft uvula, skin depigmentation along the Blascho lines on both hands; Vitamin B12 deficiency at 5.5m - 151 pmol/l (normal 216 - 893) 1 1 Johan den Dunnen
00415409 Pat16-I PubMed: Zanoni 2021 2 generation family, 1 affected, unaffected non carrier parents M no - white - - - - NDD GW26 6/7-termination of pregnancy, length 32cm (-1.11), weight 710g (-1.3), OFC 23cm (-1.5); intrauterine growth retardation, microcephaly, heart malformation; vermis hypoplasia; no ophthalmological abnormalities; no pulmonary abnormalities; interrupted aortic arch, ventricular septal defect; no gastrointestinal abnormalities; no genitourinary abnormalities; no skeletal/limb abnormalities; hypertelorism; Median superior gingival cleft 1 1 Johan den Dunnen
00415410 patient PubMed: Jiang 2019 2 generation family, 1 affected, unaffected heterozygous carrier parents M - China - - - - - NDD see paper; ..., intrauterine growth retardation, 1d-cyanotic, in the NICU after birth for weight management; birth C-section 40w, weight 2200g (-3.23); height 146.8cm (-0.32), weight 31.5Kg (-1.24), OFC 52cm (-1.77), BMI 14.6 (-1.87); mild intellectual disability, mild developmental delay (no IQ available); sit-10m; walk-18m; 2y-first sentences; no seizures; MRI brain normal; hypotonia, poor muscle built; ECG normal; Neonatal feeding difficulties; normal X-ray chest/spin,; mild clinodactyly 5th fingers; Greek helmet appearance nose, micrognathia, high anterior hairline with prominent glabella, widely spaced eyes, epicanthus, highly arched eyebrows, short philtrum, down-turned corners of the mouth; abnormal teething 1 1 Johan den Dunnen
00415411 patient PubMed: Cueto-Gonzalez 2022 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Spain - - - - - NDD see paper; ..., short stature,OFC –1.95 SD, marked brachycephaly, moderate myopia (–3/–4 diopters), distal joint laxity (Beighton score 4/9), high implantation hair frontal area, nose deviated to right, underdeveloped nasal alae, ears simplified and unfolded, sparse one-third external eyebrows, wide bridge nose, widely spaced eyes, cutaneous syndactyly between III-IV bilateral fingers both hands, cutaneous syndactyly both feet with brachydactyly in IV and V toes;mild/moderate intellectual disability, inability to read or perform simple calculations 1 1 Johan den Dunnen
00415412 Pat1 PubMed: Bernardini 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - NDD see paper; ... 1 1 Johan den Dunnen
00415413 Pat2 PubMed: Bernardini 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - - - - NDD intrauterine growth retardation; 41w birth uneventful, length 44cm (-3.73), weight 2320g (-2.93), OFC 31.2 (-3.08); height <P3, weight <P3, OFC -3SD; mild intellectual disability (WISC-III IQ 54); walk-14m; 5y-toilet training; 14m-first words. language delay; no behavioral issues; no seizures; ultrasound after birth subependymal and intrathalamic hyperechogenic spots; bilateral conductive hearing impairment; mild mitral valve prolaps; no; no genitourinary abnormalities; syndaktyly II-III feet, mild scoliosis, pes cavus bilateral; cleft palate, surgically corrected 1 1 Johan den Dunnen
00415414 Pat3 PubMed: Bernardini 2018 2 generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - NDD intrauterine growth retardation, neonatal jaundice, generalized hypotonia; 39w birth C-section (because of intrauterine growth retardation), length 47cm (-1.78), weight 2150g (-2.66); height 104cm (-1.88), weight 13,8Kg (-2.7), OFC 46.5cm (-4.21), BMI 12.8 (-2.28); severe intellectual disability (4y3m-global IQ 24); walk-14m; 18m-first words, absent language; mixed-specific developmental disorder; no autistic features (4y3m-ADOS 1); hyperactivity, motor stereotipies; no seizures, EEG normal; 5y6mMRI brain normal; hypotonia; no hearing loss; no ophthalmological abnormalities; no cardiovascular abnormalities; Neonatal feeding difficulties due to poor suction; no genitourinary abnormalities; normal immunoglobulin levels and lymphocyte subpopulations; no skeletal and limb abnormalities; nevus depigmentosus 8x10.3 cm 1 1 Johan den Dunnen
00424213 Pat1 PubMed: Popp 2022 - M - Germany - - - - - ID abnormal facial shape (HP:0001999); coarse facial features (HP:0000280); no triangular face (-HP:0000325); square face (HP:0000321); thick hair (HP:0100874); no high anterior hairline (-HP:0009890); low anterior hairline (HP:0000294); no broad forehead (-HP:0000337); laterally sparse eyebrows (HP:0005338) (1/2); large palpebral fissures (HP:0001090) (1/2); hypertelorism (HP:0000316) (1/2); no periorbital hyperpigmentation (-HP:0001106); infra-orbital crease (HP:0100876); anteverted nares (HP:0000463); wide nasal bridge (HP:0000431); long philtrum (HP:0000343); no short philtrum (-HP:0000322); thin upper lip (HP:0000219); exaggerated cupid's bow (HP:0002263); posteriorly rotated ears (HP:0000358) (1/2); abnormality of the foot (HP:0001760); abnormality of the hand (HP:0001155); abnormality of skeletal morphology (HP:0011842); tapered fingers (HP:0001182); short neck (HP:0000470); brachydactyly (HP:0001156); hypoplastic fingernails (HP:0001804, hypoplastic toenails (HP:0001800); large hands (HP:0001176); single transverse palmar crease (HP:0000954); short stature (HP:0004322) (1/2); global developmental delay (HP:0001263), intellectual disability (HP:0001249); moderate intellectual development (HP:0011343), moderate social development HP:0002342)); no behavioral abnormalities (-HP:0000708); no autistic behavior (-HP:0000729); muscular hypotonia (HP:0001252); abnormal liver morphology (HP:0410042); abnormality of the eye (HP:0000478); abnormality of the genitourinary system (HP:0000119); abnormality of the respiratory system (HP:0002086); abnormal heart morphology (HP:0001627); functional abnormality of the gastrointestinal tract (HP:0011024) (1/2); feeding difficulties (HP:0011968); failure to thrive (HP:0001508) 1 1 Johan den Dunnen
00424214 Pat2 PubMed: Popp 2022 - M - Germany - - - - - ID abnormal facial shape (HP:0001999); coarse facial features (HP:0000280); no triangular face (-HP:0000325); square face (HP:0000321); thick hair (HP:0100874); no high anterior hairline (-HP:0009890); low anterior hairline (HP:0000294); no broad forehead (-HP:0000337); laterally sparse eyebrows (HP:0005338) (1/2); large palpebral fissures (HP:0001090) (1/2); hypertelorism (HP:0000316) (1/2); no periorbital hyperpigmentation (-HP:0001106); infra-orbital crease (HP:0100876); anteverted nares (HP:0000463); wide nasal bridge (HP:0000431); long philtrum (HP:0000343); no short philtrum (-HP:0000322); thin upper lip (HP:0000219); exaggerated cupid's bow (HP:0002263); posteriorly rotated ears (HP:0000358) (1/2); abnormality of the foot (HP:0001760); abnormality of the hand (HP:0001155); abnormality of skeletal morphology (HP:0011842); tapered fingers (HP:0001182); short neck (HP:0000470); brachydactyly (HP:0001156); hypoplastic fingernails (HP:0001804, hypoplastic toenails (HP:0001800); large hands (HP:0001176); single transverse palmar crease (HP:0000954); short stature (HP:0004322) (1/2); global developmental delay (HP:0001263), intellectual disability (HP:0001249); moderate intellectual development (HP:0011343), moderate social development HP:0002342)); no behavioral abnormalities (-HP:0000708); no autistic behavior (-HP:0000729); muscular hypotonia (HP:0001252); abnormal liver morphology (HP:0410042); abnormality of the eye (HP:0000478); abnormality of the genitourinary system (HP:0000119); abnormality of the respiratory system (HP:0002086); abnormal heart morphology (HP:0001627); functional abnormality of the gastrointestinal tract (HP:0011024) (1/2); feeding difficulties (HP:0011968); failure to thrive (HP:0001508) 1 1 Johan den Dunnen
00469515 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00470150 Pat10 PubMed: Ernst 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - Middle-East - - - - ? see paper; ..., bilateral aphakia; bilateral microphthalmia; characteristic features suggestive of Wolf-Hirschhorn syndrome 1 1 Johan den Dunnen
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