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Human Disease

hypotonia, ataxia, and delayed development syndrome

Term ID
DOID:0081176
Synonyms
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. (4)
References
Ontology
Human Disease   ( DOID:0081176 )
Relationships
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Genes Involved
Zebrafish Models