Syndrome of total alopecia, multiple skeletal anomalies, shortness of stature, and mental deficiency.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000505:Alopecia / Q000235:genetics*; D001827:Body Height; D001842:Bone and Bones / Q000002:abnormalities; D003241:Consanguinity; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D013577:Syndrome