All individuals with variants in gene TMCO1

3 entries on 1 page. Showing entries 1 - 3.
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00002641 - - - M no Turkey white - - - - - - 1 1 Davut Pehlivan
00419211 Pat1 PubMed: Abdelrazek 2023 family, 1 affected F yes Egypt - - - - - CFSMR see paper; ..., birth weight 3750g (+1.4SD); global developmental delay, hypotonia, hearing loss; 1y2m-sat unsupported, able to stand up with support, able to grasp and transfer objects between hands and throw things on floor; spoke about five words; visually alert, socially awake, friendly demeanor; hypertrichosis, macrocephaly, brachycephaly, plagiocephaly, dysmorphic facial features (frontal bossing, receding frontal hairline with frontal upsweep, long, straight and bushy eyebrows, synophrys, long eyelashes, wide nasal bridge, short nose with upturned tip, deep and long philtrum, small mouth with thin upper lip, large protruding tongue, low-set ears; short neck with low posterior hairline, prominent interdigital folds, joint laxity, diastasis recti; 22-OFC increased (50.5cm, +2.6SD), length 87 cm (+0.87SD), weight 11.9kg (+0.13SD) within normal range 1 1 Tess Holling
00419212 Pat2 PubMed: Abdelrazek 2023 family, 1 affected M - Egypt - - - - - CFSMR see paper; ..., birth weight was 2.5kg (−1.9SD), polyhydramnios; delayed development, not able to sit alone, could partially hold his neck, delayed speech and language development; hypotonia, facial dysmorphism (brachycephaly, prominent forehead with hirsutism, frontal upsweep, blue sclera, hypertelorism, long eyelashes and bushy, highly arched eyebrows with synophrys, wide nasal bridge, short nasal ridge, short columella, long and narrow philtrum, low-set ears); pectus carinatum, widely spaced nipples; camptodactyly right 3rd and 4th fingers and left 3rd finger, bilateral clinodactyly 5th fingers, bilateral syndactyly 2nd and 3rd toes; 13m-growth parameters within the normal range, OFC 44cm (−1.81SD), length 78cm (+0.42SD), weight8.5kg (−2SD); similarly affected older male sib, similar facial dysmorphism, hydrocephalus, cleft lip and palate, 3m-died 1 1 Tess Holling
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