Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome

disorder

SNOMED 1222655009CUI C5681321

Overview

Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Delayed fine motor development

Very frequent (80-99%)HP:0010862

Delayed gross motor development

Very frequent (80-99%)HP:0002194

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Optic atrophy

Very frequent (80-99%)HP:0000648

Speech delay

Very frequent (80-99%)HP:0000750

Undergrowth

Very frequent (80-99%)HP:0001508

Abnormal mitochondrial shape

Frequent (30-79%)HP:0012087

Ataxia

Frequent (30-79%)HP:0001251

Difficulty speaking

Frequent (30-79%)HP:0002465

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Loss of milestones

Frequent (30-79%)HP:0002376

Muscular hypotonia

Frequent (30-79%)HP:0001252

Poor vision

Frequent (30-79%)HP:0000505

Abnormality of movement

Occasional (5-29%)HP:0100022

Abnormality of the basal ganglia

Occasional (5-29%)HP:0002134

Ambiguous external genitalia

Occasional (5-29%)HP:0000062

Blindness

Occasional (5-29%)HP:0000618

Cataract

Occasional (5-29%)HP:0000518

Central scotoma

Occasional (5-29%)HP:0000603

Cerebellar vermis hypoplasia

Occasional (5-29%)HP:0001320

Corpus callosum abnormality

Occasional (5-29%)HP:0001273

Decreased size of cranium

Occasional (5-29%)HP:0000252

Degeneration of cerebellum

Occasional (5-29%)HP:0001272

Delayed myelination

Occasional (5-29%)HP:0012448

Diffuse cerebral atrophy

Occasional (5-29%)HP:0002506

Electroencephalogram abnormal

Occasional (5-29%)HP:0002353

Hypoplasia of corpus callosum

Occasional (5-29%)HP:0002079

Inability to coordinate movements when walking

Occasional (5-29%)HP:0002066

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Paucity of cerebral white matter

Occasional (5-29%)HP:0012430

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Hearing loss associated with syndrome(parent)

Mitochondrial cytopathy(parent)

Inherited optic neuropathy(parent)

Hereditary disorder of musculoskeletal system(parent)

Disease of skeletal muscle(parent)

Hereditary ataxia(parent)

Optic atrophy(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 1222655009
UMLS CUI: C5681321
Fully Specified Name: Optic atrophy, ataxia, peripheral neuropathy, global developmental delay syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.