Human genes for schneckenbecken dysplasia
Schneckenbecken dysplasia [DOID:0050775]
An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31.
Synonyms: schneckenbecken dysplasia, DOID:0050775, schneckenbecken dysplasias
Linkouts: OMIM