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congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

MeSH: C567769ORPHA: 330054

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 congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, sourced from HPO and Orphanet clinical annotations.

Progressive sensorineural hearing impairmentPtosisDevelopmental cataractHypotoniaGlobal developmental delayReduced tendon reflexesRotary nystagmusHypoplasia of the corpus callosumLactic acidosisAxial hypotoniaDecreased circulating ferritin concentrationAbnormal muscle fiber protein expression

Classification & Codes

MeSH Code

C567769

Orphanet Code

ORPHA:330054
congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
MeSHC567769
OrphanetORPHA:330054
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO