Term Name: | autosomal recessive intellectual developmental disorder 66 |
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Synonyms: | |
Definition: | An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13. |
Ontology: | Human Disease [DOID:0081227] ( DOID:0081227 ) |