Term Name: | autosomal dominant intellectual developmental disorder 72 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0061045] ( DOID:0061045 ) |