Term Name: holoprosencephaly 9
Synonyms: holoprosencephaly with microphthalmia and first branchial arch anomalies, HPE9, pituitary anomalies with holoprosencephaly-like features
Definition: A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14.
Ontology: Human Disease [DOID:0110873]   ( DOID:0110873 )

Relationships
is a type of: autosomal dominant disease holoprosencephaly