Term Name: | Athabaskan brainstem dysgenesis syndrome |
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Synonyms: | NAVAJO BRAINSTEM SYNDROME |
Definition: | A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. |
Ontology: | Human Disease [DOID:0050682] ( DOID:0050682 ) |