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cerebellar hyplasia/atrophy, epilepsy, and global developmental delay

ORPHA: 2246

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 cerebellar hyplasia/atrophy, epilepsy, and global developmental delay, sourced from HPO and Orphanet clinical annotations.

Visual impairmentAbnormal electroretinogramNystagmusOptic atrophyAtaxiaHypotoniaCerebellar hypoplasiaAbnormal retinal pigmentationCognitive impairment

Classification & Codes

Orphanet Code

ORPHA:2246
cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
OrphanetORPHA:2246
Treatments0 drug(s)
Symptoms on record9 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO