Human genes for geroderma osteodysplasticum
Geroderma osteodysplasticum [DOID:0111266]
A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2.
Synonyms: geroderma osteodysplasticum, DOID:0111266, geroderma osteodysplasticums, geroderma osteodysplastica, gerodermia osteodysplastica ...