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Human Disease

autosomal recessive intellectual developmental disorder 74

Term ID
DOID:0081218
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
Ontology
Human Disease   ( DOID:0081218 )
Relationships
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Genes Involved
Zebrafish Models