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white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

MeSH: C536701ORPHA: 3207

Contents

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

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 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.

MicrocephalyHypertelorismMicrognathiaWide nasal bridgeDownslanted palpebral fissuresSynophrysAdducted thumbIntellectual disabilityHypotoniaHyperreflexiaFrontal bossingVentriculomegalyCerebral cortical atrophyShort statureAplasia/Hypoplasia of the cerebellumAplasia/Hypoplasia of the corpus callosumCerebral white matter hypoplasia

Classification & Codes

MeSH Code

C536701

Orphanet Code

ORPHA:3207
white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
MeSHC536701
OrphanetORPHA:3207
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO