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Metadata
ID DOID:0070073
Name autosomal dominant intellectual developmental disorder 43
Definition An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development with impaired intellectual development and poor speech, hypotonia, and nonspecific dysmorphic features that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2.
https://pubmed.ncbi.nlm.nih.gov/27003583/, https://www.ncbi.nlm.nih.gov/pubmed/27003583
Xrefs

MIM:616977

Synonyms

autosomal dominant mental retardation 43 [EXACT]

autosomal dominant non-syndromic intellectual disability 43 [EXACT]

MRD43 [EXACT]

Parent Relationships

is_a autosomal dominant intellectual developmental disorder

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