Peculiar facial appearance, hydrocephalus, double-outlet right ventricle, genital anomalies and dense bones with lethal outcome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001842:Bone and Bones / Q000002:abnormalities; D003241:Consanguinity; D005149:Facial Expression; D005804:Genes, Lethal; D005808:Genes, Recessive; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D006849:Hydrocephalus / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D014188:Transposition of Great Vessels / Q000235:genetics*