Term Name: Meier-Gorlin syndrome 9
Synonyms:
Definition: A Meier-Gorlin syndrome that is characterized by short stature, microtia, and patellar hypoplasia or absence and that has_material_basis_in homozygous or compound heterozygous mutation in the GINS3 gene on chromosome 16q21.
Ontology: Human Disease [DOID:0051069]   ( DOID:0051069 )

Relationships
is a type of: autosomal recessive disease Meier-Gorlin syndrome