Term Name: | autosomal recessive intellectual developmental disorder 41 |
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Synonyms: | |
Definition: | An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. |
Ontology: | Human Disease [DOID:0081206] ( DOID:0081206 ) |