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 )

Relationships
is a type of: syndromic X-linked intellectual disability