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Human Disease

autosomal recessive intellectual developmental disorder 43

Term ID
DOID:0081207
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
Ontology
Human Disease   ( DOID:0081207 )
Relationships
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Genes Involved
Zebrafish Models