Term Name: | syndromic X-linked intellectual disability type 10 |
---|---|
Synonyms: | HSD10 deficiency, atypical type, HSD10 disease, atypical type, mental retardation, X-linked syndromic 10, MRXS10, X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome |
Definition: | A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. |
Ontology: | Human Disease [DOID:0060810] ( DOID:0060810 ) |