All individuals with variants in gene SART3

2 entries on 1 page. Showing entries 1 - 2.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00446702 Pat1 PubMed: Stevens 2016 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - ? pregnancy uncomplicated, mother noted diminished fetal movements; birth 35w+4, weight 2.68 kg (–0.30 SD), length 47 cm (–0.37 SD), OFC 32 cm (–0.75 SD); severe feeding problems, tube feeding need for sufficient caloric intake; 6y8m-height 110.2cm (–2.29 SD), 6y8m-weight 17 kg (–1.09 SD), 6y6m-OFC –2.76 SD; 3y-walked independentl; 3y-spoke; mild intellectual delay; triangular-shaped face with pointed chin; normal blond straight head hair, hypertrichosis of arms and back; epicanthus, upslanted palpebral fissures, hyperopia (+6.5D); full nasal tip, prominent columella; deeply grooved philtrum; full lower lip; prominent crus helicis right ear; pointed chin; normal thorax; congenital trigger thumb, dysplastic nail left hallux; normal genitalia; no puberty; no epilepsy; MRI brain thin corpus callosum, slightly delayed myelination, suggestion of bilateral parieto-occiptalpolymicrogyria, periventricular hyperintensities; no cardiac anomalies; recurrent upper airway infections, delayed intestinal mobility problems, late first tooth eruption > 3y 1 1 Johan den Dunnen
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