Radial ray defects, triangular face, telecanthus, sparse hair, dwarfism, and mental retardation.
Imaizumi
K
K
Division of Medical Genetics, Kanagawa Children's Medical Center, Japan.
Kuroki
Y
Y
D000015:Abnormalities, Multiple; D004392:Dwarfism; D005121:Extremities / Q000000981:diagnostic imaging; D005145:Face / Q000002:abnormalities*; D006197:Hair / Q000002:abnormalities; D006228:Hand Deformities, Congenital; D006801:Humans; D007223:Infant; D008607:Intellectual Disability; D017880:Limb Deformities, Congenital; D008297:Male; D011859:Radiography; D012886:Skull / Q000002:abnormalities; D013577:Syndrome