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severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome

ORPHA: 466688

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 intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, sourced from HPO and Orphanet clinical annotations.

Thick lower lip vermilionMicrocephalyLow anterior hairlineNarrow foreheadPosteriorly rotated earsAnteverted naresStrabismusLong eyelashesThick eyebrowHirsutismGlobal developmental delayAgenesis of corpus callosumHypertoniaCerebellar vermis hypoplasiaAbsent speechGrowth delayNonprogressive cerebellar ataxiaLimb hypertoniaHighly arched eyebrowSevere intellectual disabilityPrimary microcephalyPalpebral edemaPoor speech

Classification & Codes

Orphanet Code

ORPHA:466688
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
OrphanetORPHA:466688
Treatments0 drug(s)
Symptoms on record23 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | OrphanDrug