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X-linked intellectual disability, Schimke type

MeSH: C536630ORPHA: 85285

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 X-linked intellectual disability, Schimke type, sourced from HPO and Orphanet clinical annotations.

Hearing impairmentExternal ophthalmoplegiaIntellectual disabilitySpasticityGlobal developmental delayChoreoathetosisAbsent speechFailure to thrive in infancyPoor suckPoor head controlShort statureSecondary microcephalyFloppy infantDyskinesiaVesicoureteral refluxHydronephrosisHigh palateNarrow nasal bridgeDeeply set eyeHyperreflexiaCerebral cortical atrophyElbow flexion contractureHip contractureKnee flexion contractureAnkle flexion contractureGastrostomy tube feeding in infancy

Classification & Codes

MeSH Code

C536630

Orphanet Code

ORPHA:85285
X-linked intellectual disability, Schimke type
MeSHC536630
OrphanetORPHA:85285
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO