All individuals with variants in gene SUPT16H

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00438679 HSJ0655 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00472320 Pat1 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; birth 35w; weight 12.5kg (SD+0.89), height 84cm (SD+1.32), OFC 49cm (SD+1.26); gross motor delay, not yet walking; speech delay, no words; developmental delay; 16m-epilepsy (generalized tonic clonic, tonic, myoclonic), Lennox-Gastaut syndrome, EEG abnormal; autism traits (ASD); hypotonia; involuntary movements, spasms; no sleep disturbance; ocular issues (CVI); no hearing loss; no feeding issues, no swallowing issues; bilateral hydronephrosis with intact corticomedullary differentiation; no congenital heart defects; no endocrine issues; no scoliosis; bitemporal narrowing, tall forehead, cleft chin; normal ears; normal eyes; short upturned nose, narrow angle between philtrum grooves, hypoplastic columella, high arched palate; tapered fingers and 2nd toes overlapping his 3rd toes bilaterally 1 1 Johan den Dunnen
00472321 Pat2 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; birth 41w; weight 17.8kg (SD-0.17), height 108.2cm (SD-0.02), OFC 50.5cm (SD+0.11); no gross motor delay; severe speech delay, 3y-first words, 5y-no sentences; moderate developmental delay; moderate intellectual disability; no epilepsy; autism traits (ASD); no behavioral issues; no hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet 1 1 Johan den Dunnen
00472322 Pat3 PubMed: Lee 2026 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD see paper; birth 34w; weight 16.6kg (SD-1.34), height 109.9cm (SD-0.36), OFC 48.5cm (SD-2.00); no gross motor delay, 12m-walk; severe speech delay, no sentences; moderate developmental delay; intellectual disability; no epilepsy; no autism; hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; plagiocephaly, prominent forehead, pointy chin; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet 1 1 Johan den Dunnen
00472323 Pat4 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; birth 37+5w; weight 68kg (SD+0.14), height 165.5cm (SD-1.26), OFC 53.3cm (SD-1.21); moderate gross motor delay; moderate-severe speech delay, 5y-full sentences; moderate developmental delay; moderate intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (fluctuations in behavior and responsivness); hypotonia; no involuntary movements; sleep disturbance; hyperopia; no hearing loss; no feeding issues, no swallowing issues; multicystic kidneys, testicular germ cell tumor; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; protruding ears with thickened/malformed helical folds; downslanting palpebral fissures; wide nasal base; claw toes 1 1 Johan den Dunnen
00472324 Pat5 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; birth 38w+1, respiratory difficulty; OFC SD<-2; severe gross motor delay, not yet walking; severe speech delay; severe developmental delay; no epilepsy; hypotonia; no ocular issues; bilateral hearing loss; hypospadias; ventricular septal defect; no scoliosis; postanatal microcephaly; dysmorphic ears; normal eyes; dysmorphic nose; dysmorphic mouth; large hands and feet 1 1 Johan den Dunnen
00472325 Pat6 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; birth 40w, torcicollis; weight 83.6kg (SD+0.91), height 197.4cm (SD+2.94); no gross motor delay; speech delay; developmental delay; mild intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (ADHD); no hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head, double whorl; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet 1 1 Johan den Dunnen
00472326 Pat7 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; birth 40w; weight 21.3kg (SD-0.74), height 110cm (SD-2.4), OFC 50.5cm (SD-0.77); severe gross motor delay, 5y-walk; severe speech delay; severe developmental delay; severe intellectual disability; no epilepsy; no autism; no behavioral issues; hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 6.8y-MRI brain hypoplastic corpus callosum; constipation; no congenital heart defects; short stature, IGF-1 deficiency; scoliosis; bitemporal narrowing scaphocephaly, pointy chin; normal ears; lateral eyebrow thinning; wide nasal bridge, cleft palate, thin upper vermilion; 3/4/5 metacarpal shortening; mild lipid storage on muscle biopsy 1 1 Johan den Dunnen
00472327 Pat8 PubMed: Lee 2026 2-generation family, 3 affected (mother, maternal grandmother, maternal uncle and newborn sibling heterozygous carrier) F - - - - - - - NDD see paper; birth 37w, respiratory difficulty; weight 14.8kg (SD-1.09), height 100.5cm (SD-0.75); moderate gross motor delay, 22m-walk; severe speech delay, 2y-first work; moderate developmental delay; no epilepsy; autism; behavioral issues; hypotonia; involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 2y-MRI brain normal; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet; mother/maternal uncle mild developmental concerns in childhood, maternal grandmother no developmental concerns 1 3 Johan den Dunnen
00472328 Pat9 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; birth 40w; weight 70.8kg (SD+1.03), height 174.2cm (SD+0.59), OFC 59.5cm (SD+3.09); no gross motor delay, 11m-walk; no speech delay; no developmental delay; no intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (selective mutism at 13 y); no hypotonia; involuntary movements; sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 15y-MRI brain normal; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; macrocephaly, dolichocephaly, long face, maxillary hypoplasia; normal ears; normal eyes; long nose, bulbous nasal tip; maxillary prominence; long philtrum, prominent lips; long fingers with full/broad fingertips and prominent fingertip pads. Increased amount of creases over palm of hands and fingers b/l, some deep. Longer toes, hypoplastic b/l great toenails due to ingrown toenail removal 1 1 Johan den Dunnen
00472329 Pat10 PubMed: Lee 2026 2-generation family, 1 affected, unaffected heterozygous carrier mother F - - - - - - - NDD see paper; birth 40w; weight 23.4kg (SD+1.50), height 114cm (SD+1.28), OFC 50cm (SD-0.22); no gross motor delay; severe speech delay, 5y-no sentences; moderate developmental delay; no epilepsy; autism traits (ASD); no behavioral issues; no hypotonia; no involuntary movements; sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet 1 1 Johan den Dunnen
00472330 Pat11 PubMed: Lee 2026 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD see paper; birth 38w, respiratory difficulty; weight 10.9kg (SD+0.46), height 72. 5cm (SD-1.10), OFC 47cm (SD+0.50); gross motor delay, 1y-sit; speech delay, 1y-no words or babble; moderate developmental delay; no epilepsy; hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 4m-MRI brain thinning of the corpus callosum, enlarged third and lateral ventricles; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; broad long forehead; normal ears; deep set eyes; short nose with flattened tip, small mouth with cupid's bow, pointy chin, jowly cheeks; normal hands/feet 1 1 Johan den Dunnen
00472331 Pat12 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; birth 40w; weight 67.9kg (SD+0.58), height 153.7cm (SD-2.22), OFC 55cm (SD-0.07); mild gross motor delay, 15m-walk; severe speech delay, no sentences; moderate developmental delay; mild intellectual disability; no epilepsy; no autism; behavioral issues (ADD/ADHD); no hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 11y-16y-MRI brain, Rathke's cleft cyst; no gastrointestinal/genitourinary issues; no congenital heart defects; short stature, growth hormone deficiency; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; short hands with thick short finger 1 1 Johan den Dunnen
00472332 Pat13 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier mother F - United States - - - - - NDD see paper; ..., weight 14.2kg (SD+0.63), height 89.8cm (SD-0.36),; mild gross motor delay; mild speech delay; mild developmental delay; mild intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (sensory defensiveness, irritability); mild hypotonia; no involuntary movements; sleep disturbance; no ocular issues; no hearing loss; feeding issues, swallowing issues, feeding tube; 2y-MRI brain, extensive posterior predominant abnormal WM signal; constipation, gastrointestinal reflux ad insfant; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet; asthma, pain intolerance 1 1 Johan den Dunnen
00472333 Pat14 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; birth 32w; weight 51.5kg (SD+2.77), height 132cm (SD-0.15), OFC 52cm (SD+0.15); severe gross motor delay, 2y6m-walk; severe speech delay, now speking full sentences; severe developmental delay; moderate intellectual disability; no epilepsy; autism traits (ASD); no behavioral issues; hypotonia; no involuntary movements; no sleep disturbance; myopia; sensorineural, unilateral hearing loss; no feeding issues, no swallowing issues; 3y-MRI brain enlarged ventricles, mild hypoplasia superior vermis, mega cysterna magna without molar tooth; fatty liver; no congenital heart defects; 8y-precocious puberty with advanced skeletal maturity; scoliosis; dolichocephaly, bitemporal narrowing, long face, pointed chin, midface hypoplasia; normal ears; normal eyes; tented mouth, high palate; clinodactyly hands; hyperpigmentation on one thigh 1 1 Johan den Dunnen
00472334 Fam1Pat15 PubMed: Lee 2026 2-generation family, affected brother/sister, mildly affected mother M - - - - - - - NDD see paper; ..., no gross motor delay; no speech delay; no developmental delay; no epilepsy; autism; no behavioral issues; no hypotonia; no involuntary movements; sleep disturbance; no ocular issues; no hearing loss; feeding issues, swallowing issues; duodenal atresia; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet 1 3 Johan den Dunnen
00472335 Fam1Pat16 PubMed: Lee 2026 sister F - - - - - - - NDD see paper; ..., no gross motor delay;; speech delay; moderate developmental delay; mild intellectual disability (FSIQ62); no epilepsy; autism; no behavioral issues; no hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; feeding issues, swallowing issues; duodenal atresia; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet 1 1 Johan den Dunnen
00472336 Fam1mother PubMed: Lee 2026 carrier mother F - - - - - - - NDD see paper; ..., mild intellectual disability; 1 1 Johan den Dunnen
00472337 Pat17 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; birth 39w; weight 12.3kg (SD-0.30), height 89.8cm (SD+0.73), OFC 49.5cm (SD+0.60); moderate gross motor delay; severe speech delay, 2y-no words; severe developmental delay; 2y-epilepsy, absence, EEG abnormal; hypotonia, gait instability; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 2y-MRI brain normal; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; epicanthus, deep set eyes; normal nose; normal mouth; normal hands/feet 1 1 Johan den Dunnen
00472338 Pat18 PubMed: Lee 2026 2-generation family, 1 affected, unaffected parents F - United States - - - - - NDD see paper; birth 37w; weight 23.59kg (SD+1.91), height 116.84cm (SD+2.1), OFC 51.4cm (SD+1.17); mild gross motor delay; moderate speech delay, 18m-first word, 3y-2 words , 4y-full sentences; moderate developmental delay; mil-moderate intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (restless leg syndrome); hypotonia, spasticity; involuntary movements; sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; MRI brain normal; reflux as infant, frequent constipation; no congenital heart defects; no endocrine issues; no scoliosis 1 1 Johan den Dunnen
00472339 Pat19 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier mother M - - - - - - - NDD see paper; birth 38w; weight 98.4kg (SD+2.37), height 187cm (SD+1.90), OFC 61cm (SD+4.11); no gross motor delay; severe speech delay, 21m-w/regression, no speech; severe developmental delay; evere intellectual disability; epilepsy, absence, EEG normal; autism traits (ASD); behavioral issues (severe aggression, anxiety, depression); hypotonia; no involuntary movements; sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; 4y-MRI brain normal; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet 1 1 Johan den Dunnen
00472340 Pat20 PubMed: Lee 2026 2-generation family, 1 affected, unaffected heterozygous carrier mother M - - - - - - - NDD see paper; birth 39w; weight 32kg (SD+1.82), height 120cm (SD-0.32), OFC 55cm (SD+2.17); mild gross motor delay; moderate speech delay; moderate developmental delay; intellectual disability; no epilepsy; autism traits (ASD); behavioral issues (hyperactivity); no hypotonia; no involuntary movements; sleep disturbance; astigmatism, hyperopia; no hearing loss; no feeding issues, no swallowing issues; MRI brain normal; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; postanatal macrocephaly; large earlobes; epicanthus; saddle nose deformity; wide hands, slender distal phalanges, bilateral transverse palm crease, valgus feet, large feet; recurrent ear infections 1 2 Johan den Dunnen
00472341 Fam2Pat21 PubMed: Lee 2026 2-generation family, 2 affected sisters, unaffected heterozygous carrier mother F - - - - - - - NDD see paper; birth 36w; weight 93kg (SD+2.38), height 160cm (SD-0.39), OFC 59cm (SD+4.21); no gross motor delay; severe speech delay; moderate developmental delay; intellectual disability; no epilepsy, 2y-EEG pathological (then normal); autism traits (ASD); behavioral issues (hyperactivity); no hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; MRI brain normal; no gastrointestinal/genitourinary issues; no congenital heart defects; galactorrhea, dysmenorhea, hirsutism, hyperprolactinemia; no scoliosis; postanatal macrocephaly; normal ears; normal eyes; normal nose; normal mouth; wide hands, flat and large feet; hair loss, recurrent ear infections 1 2 Johan den Dunnen
00472342 Fam2Pat22 PubMed: Lee 2026 sister F - - - - - - - NDD see paper; birth 40w; weight 18kg (SD+0.67), height 112cm (SD+2.31); no gross motor delay; moderate speech delay, 12m-w/regression, 3y-started speaking words again; moderate developmental delay; no epilepsy; autism traits (ASD); no behavioral issues; no hypotonia; no involuntary movements; sleep disturbance; no ocular issues; no hearing loss; feeding issues, swallowing issues; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; no scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet 1 1 Johan den Dunnen
00472343 Pat23 PubMed: Lee 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; birth 38w; weight 55.5kg (SD+0.30), height 170cm (SD+0.80), OFC 58cm (SD+2.22); gross motor delay, 13m-walk; speech delay; moderate developmental delay; no intellectual disability; no epilepsy; autism traits (ASD); no behavioral issues; hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; MRI brain small volume residual corpus callosum; hydrocephaly; bilateral lateral ventriculomegaly; bilateral cerebral white matter volume loss; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; scoliosis; normal skull/head; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet 1 1 Johan den Dunnen
00472344 Pat24 PubMed: Lee 2026 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD see paper; ..., birth respiratory difficulty; weight 87.2kg (SD+2.03), height 177cm (SD+0.85), OFC 59cm (SD+2.74); 10m-epilepsy unknown type, EEGG abnormal; autism traits (PDD); behavioral issues (ADD/ADHD); no hypotonia; no involuntary movements; no sleep disturbance; no ocular issues; no hearing loss; no feeding issues, no swallowing issues; no gastrointestinal/genitourinary issues; no congenital heart defects; no endocrine issues; scoliosis; macrocephaly; normal ears; normal eyes; normal nose; normal mouth; normal hands/feet 1 1 Johan den Dunnen
00472345 Pat1 PubMed: Bina 2020 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - NDD see paper; ..., gross motor delay; no speech (non-verbal); severe intellectual disability; autistic features; no seizures; spina bifida, tethered cord; sleep disturbance; thin corpus callosum; decreased white matter volume; frontal bossing, dolichocephaly; hypertelorism, epicanthal folds; ears thick helices, slightly posteriorly rotatedears, low-set ears; normal nose; normal mouth; no precocious puberty; no congenital heart defects; constipation; dermatographia 1 1 Johan den Dunnen
00472346 Pat2 PubMed: Bina 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., gross motor delay; no speech (non-verbal); severe intellectual disability; autistic features; no seizures; normal spine; sleep disturbance; no facial dysmorphism; down-slanting palpebral fissures; normal ears; broad nasal bridge; bifid uvula, prominent cupid’s bow; tapered fingers; precocious puberty; no congenital heart defects; history of feeding difficulties 1 1 Johan den Dunnen
00472347 Pat3 PubMed: Bina 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - NDD see paper; ..., gross motor delay; speech delay; mild-moderate intellectual disability; no autistic features; no seizures; normal spine; no sleep disturbance; no facial dysmorphism; strabismus; normal ears; normal nose; normal mouth; no precocious puberty; no congenital heart defects; no gastrointestinal anomalies; asthma; pyramidal syndrome 1 1 Johan den Dunnen
00472348 Pat4 PubMed: Bina 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., gross motor delay; speech delay; mild-moderate intellectual disability; simple partial seizures; normal spine; no sleep disturbance; thin corpus callosum; decreased white matter volume; plagiocephaly; normal eyes; cupped ears, dysplastic ears; normal nose; normal mouth; right facial palsy; no precocious puberty; congenital heart defects; G-tube placement; torticollis; hydronephrosis; mixed hearing loss 1 1 Johan den Dunnen
00472349 Pat5 PubMed: Bina 2020 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - NDD see paper; ..., gross motor delay; no speech (non-verbal); severe intellectual disability; no autistic features; complex partial seizures; scoliosis; sleep disturbance; partial agenesis corpus callosum (absent posterior body and splenium); decreased white matter volume; tall forehead, frontal bossing; hypertelorism, down-slanting palpebral fissures; dysplastic ears; wide nasal bridge and tip; small mouth with full lips; precocious puberty; congenital heart defects; constipation, gastro-oesophageal reflux disease, congenital choledochal cyst/cholecystectomy, caecostomy tube placement, ileostomy; septo-optic dysplasia; hgh deficiency; common variable immunodeficiency 1 1 Johan den Dunnen
00472350 Pat1 PubMed: Ma 2023 2-generation family, 1 affected, unaffected non-carrier parents M - - - 10y - - - NDD see paper; ..., 10y-deceased; delayed motor development; deleyed language development; intellectual disability; seizures; bilateral cerebral atrophy, bilateral frontotemporal extracranial space widening, multiple small cysts corpus callosum; OFC increased, scaphocephaly, prominent forehead; normal eyes; large ears; impaired hearing; flat nasal bridge; thick lips; congenital heart defects 1 1 Johan den Dunnen
00472351 Pat2 PubMed: Ma 2023 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - NDD see paper; ..., delayed motor development; deleyed language development; intellectual disability; recurrent, seizures (alleviated by valproic acid treatment); bilateral brain atrophy, hydrocephaly, bilateral ventriculomegaly; craniofacial malformation; small eye fissure, wide eye distance; low-set ears; flat nasal bridge, short upturned nose; normal mouth; congenital heart defects 1 1 Johan den Dunnen
00472352 patient PubMed: Balakrishnan 2024 2-generation family, 1 affected, unaffected non-carrier parents M no India - - - - - NDD see paper; ..., motor delay; global developmental delay; failure to thrive; speech delay; no intellectual disability; no autism; feeding difficulties; sleep disturbances; joint laxity; dolichocephaly, frontal bossing; bilateral epicanthus, depressed nasal bridge, short nose, bulbous nasal tip, long philtrum, narrow mouth with full lips, open mouth, protruding tongue, posteriorly rotated low set ears; hypotonia; MRI brain diffuse thinning corpus callosum 1 1 Johan den Dunnen
00472353 patient PubMed: Nishikiori 2025 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - NDD see paper; ..., birth 37w, weight 3234 g; severe intellectual disability; dysmorphic facial features; severe developmental delay; microcephaly; no seizures; MRI brain thin corpus callosum; interrupted aortic arch, ventricular septal defect; hair depigmentation; 2y9m-expressive speech delay 1 1 Johan den Dunnen
00472354 11089 PubMed: Iossifov 2014 - M - United States - - - - - autism see paper; ..., autism, intellectual disability 1 1 Johan den Dunnen
00472355 14116 PubMed: Iossifov 2014 - M - United States - - - - - autism see paper; ..., autism, no intellectual disability 1 1 Johan den Dunnen
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