Term Name: | holoprosencephaly 9 |
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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 ) |