Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome

disorder

SNOMED 763344007CUI C4014821

Overview

Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts 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.

Ataxia

Very frequent (80-99%)HP:0001251

Cerebellar cysts

Very frequent (80-99%)HP:0002350

Cerebellar dysplasia

Very frequent (80-99%)HP:0007033

Cognitive deficits

Very frequent (80-99%)HP:0100543

Moderate mental retardation

Very frequent (80-99%)HP:0002342

Abnormality of brainstem morphology

Frequent (30-79%)HP:0002363

Cognitive delay

Frequent (30-79%)HP:0001263

Hypoplasia of inferior vermis

Frequent (30-79%)HP:0007068

Long cerebellar peduncles

Frequent (30-79%)HP:0011933

Near sighted

Frequent (30-79%)HP:0000545

Oculomotor apraxia

Frequent (30-79%)HP:0000657

Retinal atrophy

Frequent (30-79%)HP:0001105

Squint

Frequent (30-79%)HP:0000486

Elevated serum creatine phosphokinase

Occasional (5-29%)HP:0003236

Generalised decreased muscle tone

Occasional (5-29%)HP:0001290

Head titubation

Occasional (5-29%)HP:0002599

Hyperopia

Occasional (5-29%)HP:0000540

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Peripheral hypotonia

Occasional (5-29%)HP:0001252

Abnormality of the periventricular white matter

HP:0002518

Breakdown of light-sensitive cells in back of eye

HP:0000556

Cerebellar vermis hypoplasia

HP:0001320

Dilated fourth ventricle

HP:0002198

Heterotopias

HP:0002282

No development of motor milestones

HP:0001270

Retinal thinning

HP:0030329

Speech difficulties

HP:0000750

Wandering eye

HP:0000646

Related Conditions

Multiple system malformation syndrome(parent)

Cerebellar ataxia(parent)

Recessive hereditary disorder (autosomal)(parent)

Oculomotor apraxia(parent)

Dysgenesis of the cerebellum(parent)

Hereditary disorder of the visual system(parent)

Hereditary ataxia(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 763344007
UMLS CUI: C4014821
Fully Specified Name: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 28

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.