syndromic X-linked intellectual disability type 10

ORPHA: 85295

Overview

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

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with syndromic X-linked intellectual disability type 10, sourced from HPO and Orphanet clinical annotations.

Atypical behaviorIntellectual disabilityAbnormality of movement

Classification & Codes

Orphanet Code

ORPHA:85295
syndromic X-linked intellectual disability type 10
OrphanetORPHA:85295
Treatments0 drug(s)
Symptoms on record3 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO