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global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

ORPHA: 480898

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 global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome, sourced from HPO and Orphanet clinical annotations.

RetrognathiaDeeply set eyeDelayed speech and language developmentGlobal developmental delayAbnormal facial shapeCorpus callosum atrophyDiffuse cerebellar atrophyGingival overgrowthProgressive microcephalyShort philtrumAbnormality of visual evoked potentialsProminent fingertip padsHyporeflexiaCerebral atrophyProfound intellectual disabilityLimb hypertoniaScoliosisDystonic gaitLow anterior hairlineMicrognathiaAbnormal pinna morphologyAstigmatismStrabismusMyopiaEsotropiaOptic atrophyVitiligoAnal atresiaEEG abnormalityLaryngotracheomalaciaCerebral visual impairment

Classification & Codes

Orphanet Code

ORPHA:480898
global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
OrphanetORPHA:480898
Treatments0 drug(s)
Symptoms on record31 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | OrphanDrug