Term Name: schneckenbecken dysplasia
Synonyms:
Definition: 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.
Ontology: Human Disease [DOID:0050775]   ( DOID:0050775 )

Relationships
is a type of: osteochondrodysplasia