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Metadata
ID DOID:0061045
Name autosomal dominant intellectual developmental disorder 72
Definition An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features that has_material_basis_in heterozygous mutation in the SRRM2 gene on chromosome 16p13.
https://pubmed.ncbi.nlm.nih.gov/35567594/
Xrefs

MIM:620439

Parent Relationships

is_a autosomal dominant intellectual developmental disorder

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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