All individuals with variants in gene CTCF

121 entries on 2 pages. Showing entries 1 - 100.
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00050577 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? cleft palate, micrognathia, pulmonic stenosis, global developmental delay, mild short stature 1 1 Johan den Dunnen
00050629 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? bilateral cleft lip and palate, pulmonic stenosis, ventricular septal defect, long palpebral fissure 1 1 Johan den Dunnen
00050674 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? gastroesophageal reflux, poor coordination, pes cavus 1 1 Johan den Dunnen
00231309 Pat3 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231310 Pat4 PubMed: Konrad 2019 - F - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231311 Pat5 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231312 Pat6 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231313 Pat7 PubMed: Konrad 2019 - F - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231314 Pat8 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231315 Pat9 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231316 Pat10 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231317 Pat11 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231318 Pat12 PubMed: Konrad 2019 - F - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231319 Pat13 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231320 Pat14 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231321 Pat15 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231322 Pat16 PubMed: Konrad 2019 - F - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231323 Pat17 PubMed: Konrad 2019 - F - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231324 Pat18 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231325 Pat19 PubMed: Konrad 2019 - F - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231326 Pat20-twin1 PubMed: Konrad 2019 2-generation family, affected twin pair M - - - - - - - DD see paper; ... 1 3 Christiane Zweier
00231327 Pat23 PubMed: Konrad 2019 - F - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231328 Pat24 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231329 Pat25 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231330 Pat26 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231331 Pat27 PubMed: Konrad 2019 - F - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231332 Pat28 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231333 Pat29 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231334 Pat30 PubMed: Konrad 2019 - F - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231335 Pat31 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231336 Pat32 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231338 Pat33 PubMed: Konrad 2019 - F - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231339 Pat34 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231340 Pat35 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231341 Pat36 PubMed: Konrad 2019 - F - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231342 Pat37 PubMed: Konrad 2019 - F - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231343 Pat38 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00231344 Pat39 PubMed: Konrad 2019 - F - - - - - - - DD see paper; ... 1 1 Christiane Zweier
00295652 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638) 1 1 Andreas Laner
00315037 GDB1200 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - ? - 1 1 Johan den Dunnen
00320443 - - prenatal testing ? ? Germany - - - - - MRD21 ultrasound abnormality: fetal retrognathia, microcephaly 1 1 Andreas Laner
00380798 ? PubMed: Nair 2018 - ? - Lebanon - - - - - MRD21 DD; ID; microcephaly; short stature (Neurological) 1 1 LOVD
00435330 - - - F - Viet Nam - - - - - MRD21 microcephaly, cleft palate, fetal retardation 1 1 Tuan Nguyen
00446608 282574 - - F no ? (unknown) - - - - - MRD21 Small for gestational age, Moderate global developmental delay, Protruding ear, Facial asymmetry, Cranial asymmetry, Premature birth 1 1 Andreas Laner
00456495 - - - M - - (not applicable) white - - - - ID HP:0004794, HP:0008676, HP:0000083, HP:0000121, HP:0000023, HP:0008715, HP:0001627, HP:0010307, HP:0004322, HP:0000823, HP:0001249, HP:0000750 1 1 Marketa Wayhelova
00458253 - - - F - - (not applicable) white - - - - NDD HP:0000717, HP:0001249, HP:0000271, HP:0000750 1 1 Marketa Wayhelova
00468790 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00468791 - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - ? - 1 1 Johan den Dunnen
00470176 - - - M - - (not applicable) white - - - - NDD HP:000098, HP:0000717, HP:0000729, HP:0001513, HP:0002342, HP:0002360, HP:0100710 1 1 Marketa Wayhelova
00470250 Pat21-twin2 PubMed: Konrad 2019 twin sister F - - - - - - - DD see paper; ... 1 1 Johan den Dunnen
00470251 Pat22 PubMed: Konrad 2019 father M - - - - - - - ID see paper; ..., epilepsy after accident, ADHD, reading difficulties, learning difficulties, low IQ 1 1 Johan den Dunnen
00470252 Pat1 PubMed: Konrad 2019 - M - - - - - - - DD see paper; ... 1 1 Johan den Dunnen
00470253 Pat2 PubMed: Konrad 2019 - F - - - - - - - DD see paper; ... 1 1 Johan den Dunnen
00470254 Pat1 PubMed: Gregor 2013 2-generation family, 1 affected, unaffected non-carrier parents M - Germany - - - - - ID see paper; ... birth-40w, weight small for gestational age, length small for gestational age, OFC small for gestational age; <1y-feeding difficulties; weight 20 kg (-2.35SD), height 125.5 cm (-3.15SD), OFC 48.2 cm (-3.51SD); developmental delay, intellectual disability (IQ64); 24m-walk; 4y-first words; no behavioral anomalies; ultrasound brain wide ventricles, plexus cyst; no recurrent infections; hypermetropia, strabism; normal hearing; inguinal hernia; small mouth, prominent incisors, small other teeth, thin upper lip; atrial septum defect, persistent ductus arteriosus, mild aortic coarctation, cleft palate, prominent finger joints, single palmar crease, sacral dimple, camptodactyly V 1 1 Johan den Dunnen
00470255 Pat2 PubMed: Gregor 2013 2-generation family, 1 affected, unaffected non-carrier parents M - Germany - - - - - ID see paper; ... birth-34w, weight 2,620 g, length 50 cm, OFC 33 cm; until 7d-feeding difficulties; muscular hypotonia; weight 25.6 kg (-0.96SD), height 129.5 cm (-0.71SD), OFC 49.5 cm (-2.61SD); developmental delay, no intellectual disability (IQ79-86); 18m-walk; >1y6m-first words; easily overstrained; recurrent infections; no hypermetropia; hearing appeared normal; cryptorchidism; pointed nose, thin upper lip; clinodactyly finger V, single palmar crease, dental anomalies 1 1 Johan den Dunnen
00470256 Pat3 PubMed: Gregor 2013 2-generation family, 1 affected, unaffected non-carrier parents M - Germany - - - - - ID see paper; ... birth-39w, weight 2,990 g, length 54 cm, OFC 34 cm; tube feeding; muscular hypotonia; weight 13.4 kg (-1.15SD), height 100 cm (-1.9SD), OFC 47.5 cm (-2.91SD); developmental delay, severe intellectual disability; 23m-walk; 3y-speech 2 words; autistic behavior; MRI brain normal; no recurrent infections; hypermetropia; normal hearing; cryptorchidism, phimosis; thin lips 1 1 Johan den Dunnen
00470257 Pat4 PubMed: Gregor 2013 2-generation family, 1 affected, unaffected non-carrier parents F - United Kingdom (Great Britain) - - - - - ID see paper; ... birth-40w, weight 2,900 g, length 49 cm; feeding difficulties; muscular hypotonia; weight 40.5 kg (-1.74SD), height 156 cm (-1.94 SD), OFC 54 cm (-0.84 SD; developmental delay, moderate intellectual disability; 30m-walk; 2y-first words; sleeping disturbances, autistic behavior, temper tantrums; CT brain 1y-dilated left ventricle; no recurrent infections; hypermetropia, strabism; normal hearing; high forehead, hypertelorism, thick eyebrows, long eyelashes, epicanthic folds, low-set posteriorly rotated ears, long philtrum, thin lips; hypertrichosis, sandal gaps, broad 1st toe 1 1 Johan den Dunnen
00470258 patient PubMed: Bastaki 2017 3-generation family, 1 affected, unaffected non-carrier parents F yes United Arab Emirates - - - - - ID see paper; ..., birth-26w due to fetal distress, intra-uterine growth retardation; neonatal jaundice, recurrent chest infections, pulmonary hemorrhage, neonatal anemia, septicemia, chronic lung disease, gastroesophageal reflux disease, retinopathy of prematurity; 2y-failure to thrive, dysmorphic features (microbrachycephaly, narrow forehead, mild synophrys, highly arched/thick eyebrows, long eye lashes, deep-seated eyes, microcornea, esotropia, midface retrusion, short nose, columella and philtrum, broad nasal tip, wide anteverted nares, cube shaped lips, prominent incisors, large cupped ears, attached ear lobes), developmental delay; 3y6m-developmentaldelay, speech delay (babble) 1 1 Johan den Dunnen
00470259 Pat1 PubMed: Chen 2019 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - NDD see paper; ..., birth; at term, weight 2.8 kg (<−1SD), length 48 cm (<−1SD); muscular hypotonia; weight 8.25 kg (<−2SD) , height 76 cm (<−2SD) , OFC 44 cm (<−2SD); developmental delay, intellectual disability, movement delay; 17m-walk; 1y7m-no speech yet; poor eye contact, irritability; no recurrent infections; strabismus; normal hearing; no urogenital anomalies; 1y7m-no teeth development; low set ears, cleft palate, upslanting palpebral fissures, unique eyebrows pattern, flat malar bone, micrognathia; 11 rib pairs; palmar creases 1 1 Johan den Dunnen
00470260 Pat2 PubMed: Chen 2019 2-generation family, 1 affected, unaffected non-carrier parents F - China - - - - - NDD see paper; ..., birth; at term, weight 2.65 kg (<−1SD), length 50 cm (normal); muscular hypotonia (childhood); weight 17.0 kg (<−2SD) , height 119.8 cm (<−3SD) , OFC 48.2 cm (<−2SD); developmental delay, intellectual disability (IQ71), movement delay, memory deficient, unable to jump with both feet; 19m-walk; 12m-first words; no behavioral anomalies; MRI brain normal; recurrent infections; strabismus; normal hearing; no urogenital anomalies; hypodontia, abnormal morphology of incisor, carious teeth; long eyelashes, unique eyebrows pattern, deep set eyes, upslanting palpebral fissures, strabismus, depressed nasal bridge, thin lips, flat malar bone, micrognathia; 12 rib pairs; 2y bone age delay 1 1 Johan den Dunnen
00470261 Pat3 PubMed: Chen 2019 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - NDD see paper; ..., birth; -39w, weight 1.9 kg (<−3SD), length 45 cm (<−3SD); no muscular hypotonia; weight 18 kg (<−2SD), height 120.3 cm (<−3SD), OFC 47.5 cm (<−3SD); developmental delay, intellectual disability, movement delay, memory deficit; <16m-walk; 24m-first words; sensitive, attention deficit, hyperactivity; CT brain normal; no recurrent infections; myopia; normal hearing; no urogenital anomalies; hypodontia, caries; widely spaced eye, depressed nasal bridge, upslanting palpebral fissures, flat malar bone, micrognathia; 12 rib pairs; persistent patent ductus arteriosus (8y-repaired) 1 1 Johan den Dunnen
00470264 Pat1 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 38w; normal birth weight; 7m-sit; 15m-walk; 21m-first word; 36m-first sentence; motor delay; speech delay; ADHD, oppositional, compulsive and impulsive; no autism; intellectual disability, developmental delay; no seizures; MRI normal; headaches; sleep problems; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; strabismus; no cleft palate/no palatal anomalies; no cardiac defect; left dysplastic kidney; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; midline is off; otitits 1 1 Johan den Dunnen
00470265 Courchesne_V4U6N;Pat2 PubMed: Wang 2020, PubMed: Valverde de Morales 2023 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 39w; normal birth weight; 6m-sit; 14m-walk; 13m-first word; 48m-first sentence; motor delay; speech delay; aggressive behavior; destructive behavior; autism; intellectual disability, developmental delay; seizures; no hypotonia; MRI normal; EEG anomalies; sleep problems, wakes frequently; special education; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; musculoskeletal anomalies (no details; no plagiocephaly; no single palmar crease; no integumentary; tooth abscesses, missing adult teeth; otitits 1 1 Johan den Dunnen
00470266 Pat3 PubMed: Valverde de Morales 2023 patient M - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 39w; normal birth weight; 24m-sit; m-walk; motor delay; speech delay; no behavioural anomalies; autism; intellectual disability, developmental delay; seizures; hypotonia; MRI normal; loss of balance; sleep problems; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; cryptorchidism; tight hamstrings, spinal fusion surgery, genu valgum, spasticity in lower limbs; no plagiocephaly; no single palmar crease; no integumentary; impacted lower molars; impetigo, otitis 1 1 Johan den Dunnen
00470267 Pat4 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., prenatal microcephaly; birth 33w6d; premature birth; low birth weight (<2500g); oligohydramnios; 10m-sit; 18m-walk; 3y-first sentence; motor delay; speech delay; difficulty regulating emotions; no autism; intellectual disability, developmental delay; no seizures; hypotonia; MRI normal; sleep problems, wakes frequently; special education; feeding difficulties/failure to thrive; constipation; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections 1 1 Johan den Dunnen
00470268 Pat5 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., intra-uterine growth retardation; birth 33w; premature birth; preeclampsia; 12m-sit; 36m-walk; 24m-first word; motor delay; speech delay; self harming behaviors; autism; intellectual disability, developmental delay; seizures; no hypotonia; MRI normal; EEG normal; sleep problems; special education; feeding difficulties/failure to thrive; constipation, GERD; bilateral hearing loss; normal vision; no cleft palate/no palatal anomalies; arrhythmia, atrial septal defect; no urogenital anomalies; hip dysplasia, scoliosis; no plagiocephaly; no single palmar crease; no integumentary; teeth anomalies (no details; no recurrent infections 1 1 Johan den Dunnen
00470269 Pat6 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 40w; normal birth weight; 8m-sit; 18m-walk; motor delay; no speech delay; no behavioural anomalies; autism; intellectual disability, developmental delay; no seizures; no hypotonia; EEG normal; loss of balance; sleep problems, wakes frequently; no special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; bilateral hearing loss; vision abnormalities; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; crowded teeth; recurrent infections 1 1 Johan den Dunnen
00470270 Pat7 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., intra-uterine growth retardation; birth 34w; premature birth; low birth weight (<2500g); placental hematoma; 9m-sit; 36m-walk; 10y-first sentence; motor delay; speech delay; no behavioural anomalies; autism; intellectual disability, developmental delay; seizures; hypotonia; MRI normal; no sleep problems; special education; no feeding difficulties/no failure to thrive; constipation; no hearing loss; strabismus, wears glasses; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; scoliosis; no plagiocephaly; no integumentary; normal teeth; no recurrent infections 1 1 Johan den Dunnen
00470271 Pat8 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 38w5d; 5m-sit; 15m-walk; motor delay; speech delay; ADHD; autism; intellectual disability, developmental delay; no seizures; hypotonia; sleep problems, difficulty falling asleep; homeschool; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; strabismus; cleft palate; no cardiac defect; no urogenital anomalies; musculoskeletal anomalies (no details; no plagiocephaly; single palmar crease; no integumentary; normal teeth; impetigo, otitis 1 1 Johan den Dunnen
00470272 Pat9 PubMed: Valverde de Morales 2023 patient M - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 36w; premature birth; normal birth weight; single umbilical artery; oligohydramnios; microcephaly; 15m-sit; 42m-walk; 24m-first word; 48m-first sentence; motor delay; speech delay; Tourett's; autism; intellectual disability, developmental delay; no seizures; hypotonia; MRI mild hypoplasia of C1 ring; headaches; sleep problems, difficulty falling asleep and wakes frequently; special education; no feeding difficulties/no failure to thrive; constipation; bilateral sensorineural hearing loss; wears glasses; small palate; no cardiac defect; missing left kidney, dysplastic right kidney; bilateral club feet, poor bone density, long bone fractures, vertebral compression fractures, osteopenia, talipes; no plagiocephaly; no single palmar crease; hyperkeratosis palms and soles; missing some permanent teeth; teeth in the wrong place; no recurrent infections 1 1 Johan den Dunnen
00470273 Pat10 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., intra-uterine growth retardation; birth 33w6d; premature birth; low birth weight (<2500g); single umbilical artery; amnion band, preterm labor due to pyelonephritis; 12m-sit; m-walk; 24m-first word; motor delay; speech delay; no stranger anxiety; no autism; intellectual disability, developmental delay; no seizures; hypotonia; loss of balance; no sleep problems; special education; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; bilateral hearing loss; normal vision; Pierre Robin sequence; no cardiac defect; urinary reflux and low kidney function; hypermobile; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections 1 1 Johan den Dunnen
00470274 Pat11 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., intra-uterine growth retardation; birth 34w1d; premature birth; low birth weight (<2500g); low movement; 10m-sit; 16m-walk; 15m-first word; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; EEG normal; no sleep problems; no special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; gait abnormal, Calcaneovalgus deformity; plagiocephaly; no single palmar crease; ectodermal dysplasia; conical shaped teeth; no recurrent infections 1 1 Johan den Dunnen
00470275 Pat12 PubMed: Valverde de Morales 2023 patient M - - - - - - - NDD see paper; ..., prenatal growth anomalies; birth 38w6d; microcephaly; 12m-sit; 22m-walk; no speech; motor delay; no speech; no behavioural anomalies; autism; intellectual disability, developmental delay; no seizures; hypotonia; MRI normal; EEG normal; sleep problems, wakes frequently; special education; feeding difficulties/failure to thrive; laryngomalacia, constipation, tube feeds; no hearing loss; vision abnormalities; no cleft palate/no palatal anomalies; cardiac defect (no details); no urogenital anomalies; Serial casting, tenotomy, talipes; plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections 1 1 Johan den Dunnen
00470276 Pat13 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., intra-uterine growth retardation; birth 37w; low birth weight (<2500g); oligohydramnios, low movement; 8m-sit; 14m-walk; 18m-first word; 36m-first sentence; no motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; MRI grey matter heterotropia; no sleep problems; feeding difficulties/failure to thrive; tube feeds; hearing loss; normal vision; no cleft palate/no palatal anomalies; no; no urogenital anomalies; musculoskeletal anomalies (no details; no plagiocephaly; no single palmar crease; no integumentary; abnormal decay, many cavitiies; no recurrent infections 1 1 Johan den Dunnen
00470277 Pat14 PubMed: Valverde de Morales 2023 patient M - - - - - - - NDD see paper; ..., intra-uterine growth retardation; birth 36w4d; premature birth; low birth weight (<2500g); polyhydramnios; 8m-sit; 16m-walk; 18m-first word; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; hypotonia; no sleep problems; feeding difficulties/failure to thrive, dysphagia; tube feeds; no hearing loss; normal vision; cleft palate; pink tetralogy of Fallot; hidden penis; no musculoskeletal anomalies; plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections 1 1 Johan den Dunnen
00470278 Pat15 PubMed: Valverde de Morales 2023 patient M - - - - - - - NDD see paper; ..., intra-uterine growth retardation; birth 40w; normal birth weight; 12m-sit; m-walk; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; hypotonia; loss of balance; sleep problems, wakes frequently; feeding difficulties/failure to thrive; no gastro-intestinal problems; complete bilateral hearing loss; droopy right eye, Jaw Winking Syndrome; cleft palate; cardiac defect (no details); cryptorchidism; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections 1 1 Johan den Dunnen
00470279 Pat16 PubMed: Valverde de Morales 2023 patient M - - - - - - - NDD see paper; ..., intra-uterine growth retardation; birth 36w; premature birth; low birth weight (<2500g); oligohydramnios; microcephaly; 9m-sit; 12m-walk; 18m-first word; 48m-first sentence; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; no sleep problems; special education; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; wears glasses; no cleft palate/no palatal anomalies; no cardiac defect; chordee; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; teeth came in at a weird pattern. Had an anterior cross bite and narrow arch; no recurrent infections 1 1 Johan den Dunnen
00470280 Pat17 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 38w; normal birth weight; 11m-sit; 25m-walk; 48m-first word; motor delay; speech delay; no behavioural anomalies; autism; intellectual disability, developmental delay; no seizures; no hypotonia; MRI normal; sleep problems; special education; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; amblyopia; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections 1 1 Johan den Dunnen
00470281 Pat18 PubMed: Valverde de Morales 2023 3-generation family, 3 affected (son, mother, maternal grandmother M - - - - - - - NDD see paper; ..., intra-uterine growth retardation; birth 33w4d; premature birth; low birth weight (<2500g); microcephaly; motor delay; speech delay; sterotypies, easily frustrated; autism; intellectual disability, developmental delay; no seizures; no hypotonia; MRI discrete enlargement of the occipital horns associated with moderate white matter deep posterior periventricular hypersignals; sleep problems, wakes frequently; special education; no feeding difficulties/no failure to thrive; GERD; no hearing loss; myopia, astigmatism; no cleft palate/no palatal anomalies; no cardiac defect; cryptorchidism and phimosis; valgus flat feet, needs orthotics to walk; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; otitits 1 3 Johan den Dunnen
00470282 Pat19 PubMed: Valverde de Morales 2023 mother F - - - - - - - NDD see paper; ..., motor delay; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; no sleep problems; "learning difficulties in school"; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; wears glasses; no cleft palate/no palatal anomalies; no cardiac defect; solitary kidney; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections 1 1 Johan den Dunnen
00470283 Pat20 PubMed: Valverde de Morales 2023 maternal grandmother F - - - - - - - NDD see paper; ..., walking difficult due to hip dysplasia; motor delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; no sleep problems; "learning difficulties in school"; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; hip dysplasia; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections 1 1 Johan den Dunnen
00470284 Pat21 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., intra-uterine growth retardation; birth 38.5w; low birth weight (<2500g); subchorionic hematoma; 10m-sit; 15m-walk; 14m-first word; motor delay; speech delay; behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; hypotonia; no sleep problems; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; bladder reflux; clinodactyly; no plagiocephaly; single palmar crease; no integumentary; delayed dentition; no recurrent infections 1 1 Johan den Dunnen
00470285 Pat22 PubMed: Valverde de Morales 2023 patient M - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 37w4d; normal birth weight; low movement; 9m-sit; 18m-walk; 12m-first word; 30m-first sentence; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; no sleep problems; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; single palmar crease; no integumentary; normal teeth; no recurrent infections 1 1 Johan den Dunnen
00470286 Pat23 PubMed: Valverde de Morales 2023 patient M - - - - - - - NDD see paper; ..., intra-uterine growth retardation; birth 32w; premature birth; low birth weight (<2500g); single umbilical artery; preeclampsia; microcephaly; motor delay; speech delay; behavioural anomalies; no autism; intellectual disability, developmental delay; seizures; no hypotonia; loss of balance, cerebral palsy; no sleep problems; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; cleft palate; no cardiac defect; no urogenital anomalies; kyphosis; no plagiocephaly; single palmar crease; no integumentary; normal teeth; no recurrent infections 1 1 Johan den Dunnen
00470287 Pat24 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 39w; low birth weight (<2500g); microcephaly; 60m-first sentence; motor delay; speech delay; ADHD, aggression, odd; no autism; intellectual disability, developmental delay; no seizures; hypotonia; loss of balance; sleep problems, difficulty falling asleep and wakes frequently; behavior; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; strabismus, astigmatism; cleft palate; no cardiac defect; no urogenital anomalies; scoliosis; no plagiocephaly; no single palmar crease; no integumentary; Cavities and caps on almost all teeth; no recurrent infections 1 1 Johan den Dunnen
00470288 Pat25 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 37w2d; normal birth weight; 9m-sit; 19m-walk; 24m-first word; 32m-first sentence; 2m-failure to thrive; motor delay; speech delay; ADHD, tantrum, emotional regulation anxiety; no autism; intellectual disability, developmental delay; no seizures; hypotonia; sleep problems, wakes frequently and is an early riser; special education; feeding difficulties/failure to thrive; GERD; no hearing loss; pseudostrabismus; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; severe hypdontia, missing 16 permanent teeth uneven enamel, discoloration; no recurrent infections 1 1 Johan den Dunnen
00470289 Pat26 PubMed: Valverde de Morales 2023 patient M - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 39w; normal birth weight; 8m-sit; 13m-walk; 13m-first word; 2m-seizure; no motor delay; no speech delay; no behavioural anomalies; no autism; no intellectual disability, no developmental delay; seizures; hypotonia; MRI normal; EEG anomalies; sleep problems, wakes frequently; no special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; integumentary (no details); crowded teeth, came little later than expected; no recurrent infections 1 1 Johan den Dunnen
00470290 Pat27 PubMed: Valverde de Morales 2023 patient M - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 41w; normal birth weight; 9m-sit; 16m-walk; autism; intellectual disability, developmental delay; no seizures; no hypotonia; loss of balance; sleep problems, difficulty falling asleep; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; bilateral hearing loss; Duane's retraction syndrome; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; musculoskeletal anomalies (no details; no plagiocephaly; no single palmar crease; eczema; teeth anomalies (no details; no recurrent infections 1 1 Johan den Dunnen
00470291 Pat28 PubMed: Valverde de Morales 2023 patient M - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 38w; normal birth weight; 8.5m-sit; 16m-walk; 12m-first word; 24m-first sentence; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; hypotonia; sleep problems, difficulty falling asleep and is an early riser; feeding difficulties/failure to thrive; no gastro-intestinal problems; no hearing loss; astigmatism, wears glasses; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; kyphosis, scoliosis, tight hamstrings; no plagiocephaly; no single palmar crease; no integumentary; Dentofacial disproportion, hyperdontia; no recurrent infections 1 1 Johan den Dunnen
00470292 Pat29 PubMed: Valverde de Morales 2023 patient M - - - - - - - NDD see paper; ..., intra-uterine growth retardation; birth 37w; low birth weight (<2500g); 9m-sit; 18m-walk; 18m-first word; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; sleep problems, wakes frequently; special education; no gastro-intestinal problems; no hearing loss; strabismus; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; dense teeth; no recurrent infections 1 1 Johan den Dunnen
00470293 Pat30 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., intra-uterine growth retardation; birth 30w; oligohydramnios; 9m-sit; 18m-walk; 12m-first word; 30m-first sentence; motor delay; speech delay; behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; sleep problems, difficulty falling asleep; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; hearing loss; nystagmus, wears glasses; high arched palate; no cardiac defect; no urogenital anomalies; scoliosis; no plagiocephaly; no single palmar crease; no integumentary; teeth growing before baby teeth fall off; no recurrent infections 1 1 Johan den Dunnen
00470294 Pat31 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., prenatal growth anomalies; birth 23w; premature birth; normal birth weight; bleeding; behavioural anomalies; no autism; no intellectual disability, no developmental delay; no seizures; no hypotonia; no sleep problems; feeding difficulties/failure to thrive, dysphagia; pain; no hearing loss; normal vision; no cleft palate/no palatal anomalies; atrial septal defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections 1 1 Johan den Dunnen
00470295 Pat32 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., normal birth weight; behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; no hypotonia; mri anomalies; no sleep problems; feeding difficulties/failure to thrive, dysphagia; dysphagia; bilateral hearing loss; hypermetropia; no cleft palate/no palatal anomalies; stenosis of pulmonary valve, dilated ascending aorta; no urogenital anomalies; kyphosis; no plagiocephaly; no single palmar crease; no integumentary; small teeth, ectopic teeth; no recurrent infections 1 1 Johan den Dunnen
00470296 Pat33 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 38w; low birth weight (<2500g); "aged placenta"; 6m-sit; 1y-walk; 11m-first word; 18m-first sentence; speech delay; no behavioural anomalies; no autism; no intellectual disability, no developmental delay; seizures; no hypotonia; no sleep problems; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; hypermetropia; cleft palate; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; missing teeth, abnormal shape; no recurrent infections 1 1 Johan den Dunnen
00470297 Pat34 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 40w3d; normal birth weight; behavioural anomalies (possibly ADD); no autism; intellectual disability, developmental delay; no seizures; hypotonia; no sleep problems; no feeding difficulties/no failure to thrive; GERD; one-sided hearing loss; estropia, wears glasses; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; abnormal gait; no plagiocephaly; no single palmar crease; no integumentary; Crowded and new ones growing directly behind baby teeth that havent fallen out; no recurrent infections 1 1 Johan den Dunnen
00470298 Pat35 PubMed: Valverde de Morales 2023 patient M - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 40w; normal birth weight; cord wrapped around neck; microcephaly; 7m-sit; 13m-walk; 13m-first word; 36m-first sentence; no motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; seizures; no hypotonia; MRI normal; EEG normal; no sleep problems; feeding difficulties/failure to thrive; constripation; no hearing loss; normal vision; no cleft palate/no palatal anomalies; no cardiac defect; 2y-spermatocele; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; crowded teeth, large teeth, ectopic teeth; no recurrent infections 1 1 Johan den Dunnen
00470299 Pat36 PubMed: Valverde de Morales 2023 patient M - - - - - - - NDD see paper; ..., smaal for gestational age; birth 38w; normal birth weight; polyhydramnios; 10m-sit; 18m-walk; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; hypotonia; mri anomalies; EEG normal; loss of balance; no sleep problems; special education; feeding difficulties/failure to thrive; no gastro-intestinal problems; one-sided hearing loss; hypermetropia, wears glasses; no cleft palate/no palatal anomalies; no cardiac defect; cryptorchidism; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; otitits 1 1 Johan den Dunnen
00470300 Pat37 PubMed: Valverde de Morales 2023 patient M - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 38w; normal birth weight; 6m-sit; 12m-walk; 15m-first word; 36m-first sentence; motor delay; speech delay; no behavioural anomalies; no autism; intellectual disability, developmental delay; no seizures; MRI normal; sleep problems, difficulty falling asleep; special education; feeding difficulties/failure to thrive; constipation; hearing loss, bilateral congenital conductive; one sided hypermetropia; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; normal teeth; no recurrent infections 1 1 Johan den Dunnen
00470301 Pat38 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., intra-uterine growth retardation; birth 39w; normal birth weight; 6m-sit; 13m-walk; 10m-first word; no motor delay; no speech delay; no behavioural anomalies; no autism; no intellectual disability, no developmental delay; no seizures; no hypotonia; sleep problems, difficulty falling asleep; no special education; feeding difficulties/failure to thrive, need tube; no gastro-intestinal problems; no hearing loss; normal vision; cleft palate; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; single palmar crease; eczema; Missing a permanent tooth, crowded teeth, weak enamel; no recurrent infections 1 1 Johan den Dunnen
00470302 Pat39 PubMed: Valverde de Morales 2023 patient F - - - - - - - NDD see paper; ..., no prenatal growth anomalies; birth 39w4d; normal birth weight; 12m-sit; 18m-walk; 18m-first word; 36m-first sentence; motor delay; speech delay; anxiety, does not respond well to change; no autism; intellectual disability, developmental delay; no seizures; hypotonia; sleep problems, wakes frequently; special education; no feeding difficulties/no failure to thrive; no gastro-intestinal problems; no hearing loss; cataracts, glaucoma; no cleft palate/no palatal anomalies; no cardiac defect; no urogenital anomalies; no musculoskeletal anomalies; no plagiocephaly; no single palmar crease; no integumentary; not have the correct amount of adult teeth. Several of the adult teeth that have grown in are very crooked and turned.; no recurrent infections 1 1 Johan den Dunnen
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