ZFIN Human Disease: neurodevelopmental disorder with eye movement abnormalities and ataxia

OBO ID: DOID:0081275

Term Name:	neurodevelopmental disorder with eye movement abnormalities and ataxia		Search Ontology:
Synonyms:	NEDEMA
Definition:	An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. https://pubmed.ncbi.nlm.nih.gov/36206744/
References:	OMIM:620094
Ontology:	Human Disease ( DOID:0081275 )

Relationships

is a type of:	autosomal dominant intellectual developmental disorder autosomal dominant intellectual developmental disorder Show first 5 Terms

OTHER neurodevelopmental disorder with eye movement abnormalities and ataxia PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
FRMD5	frmd5b frmd5a	Neurodevelopmental disorder with eye movement abnormalities and ataxia	620094

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None