All individuals with variants in gene SOX11

16 entries on 1 page. Showing entries 1 - 16.
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00004128 - PubMed: Tsurusaki 2014, Journal: Tsurusaki 2014 - F no Japan - >10y - - - CSS brith 38w, weight 2340 g (SD -1.9), OFC 30.5 cm (SD -1.8); birth length length 45cm(-2.2); 5m-head, 11m-sit, 1y11m-walk; speak 1y7m; developmental delay, microcephaly; absent/hypoplastic fifth finger/toenails, hypertrichosis, abnormal/delayed dentition; mid facial hypoplasia, thick lips, everted lower lip, abnormal ears, high palate, ptosis, short philtrum; clinodactyly, short stature, sucking problems; small left kidney; generalized hypotonia; feeding problems esp. neonatal period; seizures (HP:0001250); prenatal growth retardation (HP:0001511); abnormal vision (HP:0000504); highly arched eyebrow (HP:0002553); long eyelashes (HP:0000527); flat (depressed/low) nasal bridge (HP:0005280); ; 1 1 Yoshinori Tsurusaki
00004129 - PubMed: Tsurusaki 2014, Journal: Tsurusaki 2014 - F - India - >16y - - - CSS mild developmental delay, microcephaly; absent/hypoplastic fifth finger/toenails, hypertrichosis, sparse scalp hair; everted lower lip, abnormal ears; absent/hypoplastic fifth phalanx (hand), absent/hypoplastic fifth phalanx (foot), clinodactyly, short stature; hypogonadotrophic hypogonadism, bilateral malrotated kidneys; retardation prenatal; highly arched eyebrow (HP:0002553);; 1 1 Yoshinori Tsurusaki
00081322 Pat8 PubMed: Hempel 2016 - F no United Kingdom (Great Britain) white - - - - CSS, CSS9;MRD27 intellectual disability, microcephaly, absence seizures; height 89.4 cm (0.4th), weight 12.15 kg (0.4th), OFC 46.5 cm (0.4th); 30m-walk, no speech, poor feeding as neonate, autism, 5th finger clinodactyly, hypoplasia nail 5th toe, oculomotor apraxia 1 1 Alisdair McNeill
00081323 Pat9 PubMed: Hempel 2016 - M - United Kingdom (Great Britain) white - - - - CSS, CSS9;MRD27 microcephaly, developmental delay; height 109.4 cm (9th), weight 18.45 kg (9th), OFC 48.2 cm (0.4th); 30m-walk; 36m-speech; poor feeding as neonate, 5th finger clinodactyly, 2–3 toe syndactyly, hypoplasia nail 5th toe, hypermetropia 1 1 Alisdair McNeill
00174382 - - - F - (Germany) - - - - - ? HP:0000252 (Microcephaly) 1 1 IMGAG
00306973 - - - F no Germany - - - - - CSS - 1 3 Hermann-Josef Lüdecke
00306982 Pat10 PubMed: Hempel 2016 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - CSS see paper; ..., height 124.5 cm (75th), weight 29 kg (91st), OFC 54 cm (75th), walk—16m, significant speech delay, 5th finger clinodactyly, 2–3 toe syndactyly, hypoplasia nail 5th toe, oculomotor apraxia 1 1 Johan den Dunnen
00306983 Pat1 PubMed: Hempel 2016 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD see paper; ..., height 152 cm (25–50th), weight 44 kg (75th), OFC 50.4 cm (<3rd); walk-18m, speech single words, feeding GORD, autism, 5th finger clinodactyly, 2–3 toe syndactyly, scoliosis, Rt microophthalmia, inverted nipples 1 1 Johan den Dunnen
00306984 Pat2 PubMed: Hempel 2016 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD see paper; ..., height 102.5 cm (<2nd), weight 14.5 kg (<2nd), OFC 47 cm (<2nd) walk-22m; speech-18m, feeding GORD, 5th finger clinodactyly, hypermetropia 1 1 Johan den Dunnen
00306985 Pat3 PubMed: Hempel 2016 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD see paper; ..., height 158 cm (50th), OFC 52 cm (2nd); walk—20m, no speech delay, poor feeding as a neonate, 5th finger clinodactyly, 2–3 toe syndactyly, scoliosis, inverted nipples 1 1 Johan den Dunnen
00306986 Pat4 PubMed: Hempel 2016 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD see paper; ..., height 162 cm (25th), weight 50 kg (10th), OFC 49 cm (<0.4th); severe intellectual disability, gastritis, febrile seizures, 5th finger clinodactyly, 2–3 toe syndactyly, scoliosis, hypermetropia 1 1 Johan den Dunnen
00306987 Pat5 PubMed: Hempel 2016 2-generation family, 1 affected, unaffected parents M - - - - - - - NDD see paper; ..., height 150 cm (3rd), OFC 53 cm (3rd); intellectual disability, epilepsy, autism, scoliosis 1 1 Johan den Dunnen
00306988 Pat6 PubMed: Hempel 2016 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD see paper; ..., microcephalic, delayed speech, poor feeding as neonate, epilepsy, 5th finger clinodactyl 1 1 Johan den Dunnen
00306989 Pat7 PubMed: Hempel 2016 2-generation family, 1 affected, unaffected parents F - - - - - - - NDD see paper; ..., weight 10 kg (2nd), OFC 47.5 cm (50th); walk-15m, speech single words; poor feeding as a neonate, 5th finger clinodactyly, hypoplasia nail 5th toe 1 1 Johan den Dunnen
00391859 011P - - F no Spain - - - - - CSS, CSS9;MRD27 - 1 1 Alejandro Brea-Fernández
00427730 C2 PubMed: Palmer 2022 2-generation family, 1 affected, asymptomatic carrier mother M - Lebanon - - - - - NDD see paper; ..., moderate-severe intellectual disability; Infantile hypotonia; normal hearing; severe myopia; mild ataxia, VII cranial nerve palsy; delayed speech, very rudimentary; impulsiveness, anger outbursts; no seizures; EEG normal; MRI brain normal; height 10th centile; OFC 12th centile; long eyelashes, synophrys, thick eyebrows, low set ears, short but normal fifth digit phalanges in hands and feet, second toe longer than hallux left side; no gastrointestinal symptoms; cranial nerve VII palsy 1 1 Johan den Dunnen
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