All individuals with variants in gene SOX6

21 entries on 1 page. Showing entries 1 - 21.
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00302537 father PubMed: Tolchin 2020 2-generation family, 4 affected, father and 3 sibs M - United States - - - - - NDD mild intellectual disability, no further clinical evaluation available 1 4 Johan den Dunnen
00302538 PIT-1; 406933 PubMed: Tolchin 2020 sib M - United States - - - - - NDD weight +1 SD, height +1 SD, OFC 0 SD; mild intellectual disability; large ears, large nose; multiple osteochondromas; ADHD, autism, aggressive, emotional lability, tantrums, staring spells; submucous cleft palate 1 1 Johan den Dunnen
00302539 PIT-2 PubMed: Tolchin 2020 sib M - United States - - - - - NDD weight −0.5 SD, height −0.5 SD, OFC −0.5 SD; mild intellectual disability; no facial dysmorphism; multiple osteochondromas; ADHD, autism, sleep disruption, staring spells, and left-sided weakness; bilateral nasolacrimal duct obstructions, food allergies 1 1 Johan den Dunnen
00302540 PIT-3 PubMed: Tolchin 2020 sib F - United States - - - - - NDD weight +0.5 SD, height −2.5 SD, OFC +0.5 SD; normal intellectual disability; no facial dysmorphism; no osteochondromas; normal behaviour; diastasis recti, umbilical hernia, cardiac rhabdomyoma 1 1 Johan den Dunnen
00302541 CHUN-1; 406934 PubMed: Tolchin 2020 - M - France - - - - - NDD weight +2 SD, height +0.5 SD, OFC +1 SD; mild intellectual disability; no facial dysmorphism; no osteochondromas; ADHD, anxiety 1 1 Johan den Dunnen
00302542 CHLM-1; 406929 PubMed: Tolchin 2020 - F - France - - - - - NDD weight +3.5 SD, height +4.5 SD, OFC +1 SD; mild intellectual disability; no facial dysmorphism; no osteochondromas; normal behaviour; arachnodactyly, precocious puberty 1 1 Johan den Dunnen
00302543 LJU-1; 406932 PubMed: Tolchin 2020 - M - Slovenia - - - - - NDD weight 0 SD, height 0 SD, OFC −0.5 SD; mild to moderate intellectual disability; no facial dysmorphism; no osteochondromas; normal behaviour; hypermetropia 1 1 Johan den Dunnen
00302544 IHG-1; 406930 PubMed: Tolchin 2020 - M - Germany - - - - - NDD weight +4 SD, height +0.5 SD, OFC +2 SD; mild intellectual disability; no facial dysmorphism; no osteochondromas; restlessness, short attention span, quick changes of mood, aggressive 1 1 Johan den Dunnen
00302545 CHUP-1; 406931 PubMed: Tolchin 2020 - F - France - - - - - NDD weight −1 SD, height −1 SD, OFC −1 SD; moderate intellectual disability; oxycephaly (sagittal, metopic, and coronal craniosynostosis), micrognathia; no osteochondromas; attention deficit, anxiety 1 1 Johan den Dunnen
00302546 UK-1; 412103 PubMed: Tolchin 2020 - M - United Kingdom (Great Britain) - - - - - NDD weight −1 SD, height 0 SD, OFC −2 SD; moderate intellectual disability; scaphocephaly (sagittal craniosynostosis), prominent occiput, hypertelorism; no osteochondromas; ADHD, lack of sense of danger, destructive, easily upset; short fifth fingers with clinodactyly, flat feet with valgus heels 1 1 Johan den Dunnen
00302547 UK-2; 412119 PubMed: Tolchin 2020 - F - United Kingdom (Great Britain) - - - - - NDD weight −0.8 SD, height +1 SD, OFC −1 SD; mild intellectual disability; scaphocephaly (sagittal and left coronal craniosynostosis); no osteochondromas; attention deficit, sleep disturbance, aggressive episodes 1 1 Johan den Dunnen
00302548 CHUN-2; 412120 PubMed: Tolchin 2020 - M - France - - - - - NDD weight −1 SD, height −1 SD, OFC −1 SD; mild to moderate intellectual disability; high forehead; no osteochondromas; ADHD; ogival palate 1 1 Johan den Dunnen
00302549 GDX-3;a 412130 PubMed: Tolchin 2020 - M - Canada - - - - - NDD weight +1 SD, height +1.5 SD, OFC +1 SD; severe intellectual disability; no facial dysmorphism; no osteochondromas; ADHD; obesity 1 1 Johan den Dunnen
00302550 GDX-1; 412121 PubMed: Tolchin 2020 - F - United States - - - - - NDD weight +2 SD, height +1 SD, OFC 0 SD; mild intellectual disability; bitemporal narrowing, small mouth; no osteochondromas; ADHD, anxiety; bilateral inverted nipples, sensorineural hearing loss, vestibular dysfunction 1 1 Johan den Dunnen
00302551 GDX-2; 412122 PubMed: Tolchin 2020 - F - United States - - - - - NDD weight +1.5 SD, height −1 SD, OFC 0 SD; mild intellectual disability; short palpebral fissures, hooded eyelids, hypertelorism, wide nasal bridge, low-set ears; no osteochondromas; ADHD; high arched palate; long, tapering fingers; hypotonia 1 1 Johan den Dunnen
00302552 PS-1; 412123 PubMed: Tolchin 2020 - F - France - - - - - NDD weight +4 SD, height −1.5 SD, OFC 0 SD; moderate intellectual disability; synophrys; no osteochondromas; normal behaviour; short extremities, hirsutism, dental abnormalities, Hashimoto’s thyroiditis 1 1 Johan den Dunnen
00302553 CHOP-1; 412124 PubMed: Tolchin 2020 - F - United States - - - - - NDD weight +1 SD, height +2 SD, OFC 0 SD; mild intellectual disability; no facial dysmorphism; multiple osteochondromas; ADHD; dysgraphia, developmental delay 1 1 Johan den Dunnen
00302554 LEUV-1; 412126 PubMed: Tolchin 2020 - F - Belgium - - - - - NDD weight +0.1 SD, height +1.2 SD, OFC −0.9 SD; mild to moderate intellectual disability; no facial dysmorphism; no osteochondromas; ADHD, autism; tremor hands 1 1 Johan den Dunnen
00302555 LEID-1;b 412127 PubMed: Tolchin 2020 - M - Netherlands - - - - - NDD weight 0 SD, height −0.5 SD, OFC −0.2 SD; severe intellectual disability; long face, triangular; full eyebrows; no osteochondromas; autism, abnormal movements, automutilation, hyperventilation 1 1 Johan den Dunnen
00302556 CHUG-1 PubMed: Tolchin 2020 - M - France - - - - - NDD weight +0.6 SD, height +0.8 SD, OFC +0.7 SD; mild to moderate intellectual disability; no facial dysmorphism; no osteochondromas; ADHD, oppositional disorder, self-endangerment, sleep disorders; gestural dyspraxia, graphomotor difficulties, troubles in neurosensory integration 2 1 Johan den Dunnen
00467473 348301 - - M no Germany - - - - - MR;ID Neurodevelopmental delay, Delayed speech and language development, Abnormality of mental function, Reduced attention regulation, Pectus carinatum 1 1 Andreas Laner
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