Phenotypes for disease #01055 (SGBS2 (Simpson-Golabi-Behmel syndrome, type 2 (SGBS-2)), OMIM:300209)

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

AscendingPhenotype ID     

Phenotype details     










Individual ID     
0000155296 Severe muscular hypotonia, contractures of the knees, elbows, and fingers, and lack of spontaneous movements. Dysmorphic with a high anterior hairline, bitemporal narrowing, a prominent metopic ridge with a midline naevus simplex, widely spaced eyes, a depressed nasal bridge, a short nose with anteverted nares, a prominent, fleshy philtrum, a wide mouth with thick vermilion of the lips, gingival overgrowth, a narrow V‐shaped palate without clefting, micrognathia with a vertical median chin crease, overfolded ear helices, a short webbed neck, widely spaced nipples, short distal phalanges of hands and feet with small nails, and a single transverse palmar crease of the right hand. Bilateral inguinal hernias, a small penis, and an atrial septal defect, type II with a left‐right shunt. Elevated ALP level. - - Familial, X-linked - - - - - Philippe Campeau 00207519
0000155297 Coarse facial features and contractures of the fingers. Autopsy showed cystic dilation of the intrahepatic ducts, a large cystic structure in the hilar region of the liver, and mild hydronephrosis. There were no obvious brain malformations. ALP level not applicable. - - Familial, X-linked - - - - - Philippe Campeau 00207520
Legend   How to query