ZFIN Human Disease: autosomal recessive intellectual developmental disorder 74

OBO ID: DOID:0081218

Term Name:	autosomal recessive intellectual developmental disorder 74		Search Ontology:
Synonyms:
Definition:	An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported. https://pubmed.ncbi.nlm.nih.gov/33161245/
References:	OMIM:617169
Ontology:	Human Disease ( DOID:0081218 )

Relationships

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

OTHER autosomal recessive intellectual developmental disorder 74 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
APC2	apc2	Intellectual developmental disorder, autosomal recessive 74	617169

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None