Visualize Submit Comment
Metadata
ID DOID:0050682
Name Athabaskan brainstem dysgenesis syndrome
Definition A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene.
https://www.ncbi.nlm.nih.gov/pubmed/18412118, https://www.omim.org/entry/601536
Xrefs

OMIM:601536

ORDO:69739

Subsets

DO_rare_slim

Synonyms

NAVAJO BRAINSTEM SYNDROME [EXACT]

Parent Relationships

is_a brain disease

is_a autosomal recessive disease

Add an item to the term tracker