Term Name: autosomal recessive craniometaphyseal dysplasia
Synonyms:
Definition: A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22.
Ontology: Human Disease [DOID:0080802]   ( DOID:0080802 )

Relationships
is a type of: autosomal recessive disease craniometaphyseal dysplasia