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severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome

MeSH: C564508ORPHA: 369939

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

human disease

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 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome, sourced from HPO and Orphanet clinical annotations.

Hearing impairmentFailure to thriveAbnormal facial shapeAbnormal pyramidal signMicrocephalyStrabismusIntrauterine growth retardationRecurrent feverTetraplegiaCerebral hypomyelinationAbnormality of eye movementOptic atrophyAggressive behaviorHyperactivityCerebellar atrophyCerebral cortical atrophyCNS hypomyelinationCorpus callosum atrophyBrain atrophyCerebral white matter atrophy

Classification & Codes

MeSH Code

C564508

Orphanet Code

ORPHA:369939
severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
MeSHC564508
OrphanetORPHA:369939
Treatments0 drug(s)
Symptoms on record20 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO