ZFIN Human Disease: hypotonia, ataxia, and delayed development syndrome

OBO ID: DOID:0081176

Term Name:	hypotonia, ataxia, and delayed development syndrome		Search Ontology:
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:	OMIM:617330
Ontology:	Human Disease ( DOID:0081176 )

Relationships

is a type of:	autosomal dominant disease syndrome autosomal dominant disease syndrome Show first 5 Terms

OTHER hypotonia, ataxia, and delayed development syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
EBF3	ebf3a ebf3b	Hypotonia, ataxia, and delayed development syndrome	617330

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None