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DOID:0081176 - hypotonia, ataxia, and delayed development syndrome
Disease Ontology Definition:A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26.
Synonyms:
Xenbase Genes
:
ebf3
| MIM:617330 - HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)