syndromic X-linked intellectual disability type 10

Term ID

DOID:0060810

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. (2)

References

• ICD10CM:G25.5
• OMIM:300438
• ORDO:85295

Ontology

Human Disease   ( DOID:0060810 )