ZFIN Human Disease: autosomal recessive intellectual developmental disorder 43

OBO ID: DOID:0081207

Term Name:	autosomal recessive intellectual developmental disorder 43		Search Ontology:
Synonyms:
Definition:	An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays. https://pubmed.ncbi.nlm.nih.gov/34599609/
References:	OMIM:615817
Ontology:	Human Disease ( DOID:0081207 )

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 43 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
WASHC4	washc4	Intellectual developmental disorder, autosomal recessive 43	615817

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None