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Human Disease

autosomal dominant intellectual developmental disorder 76

Term ID
DOID:0081468
Synonyms
Definition
An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, mildly to severely impaired intellectual development with speech and language deficits, and autism and that has_material_basis_in heterozygous mutation in the MARK2 gene on chromosome 11q13. https://pubmed.ncbi.nlm.nih.gov/39419027/
References
Ontology
Human Disease   ( DOID:0081468 )
Relationships
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Genes Involved
Zebrafish Models