Term Name: | autosomal recessive intellectual developmental disorder 82 |
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Synonyms: | |
Definition: | An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. |
Ontology: | Human Disease [DOID:0060947] ( DOID:0060947 ) |