Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome

disorder

SNOMED 720634003CUI C1832466

Overview

Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss 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.

Arm dystonia

Always present (100%)HP:0031960

Deafness

Always present (100%)HP:0000365

Disturbances of consciousness

Always present (100%)HP:0004372

Hemiparesis

Always present (100%)HP:0001269

Imbalance

Always present (100%)HP:0002172

Paroxysmal ataxia

Always present (100%)HP:0002131

Peripheral hypotonia

Always present (100%)HP:0001252

Poor vision

Always present (100%)HP:0000505

Slowness of movements

Always present (100%)HP:0002067

Undetectable VEP

Always present (100%)HP:0007965

Absent deep tendon reflexes

Very frequent (80-99%)HP:0001284

Ataxia

Very frequent (80-99%)HP:0001251

Encephalopathy

Very frequent (80-99%)HP:0001298

Muscle weakness

Very frequent (80-99%)HP:0001324

Optic atrophy

Very frequent (80-99%)HP:0000648

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Episodic generalised hypotonia

Frequent (30-79%)HP:0006852

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Abnormal finger-nose-finger test

Occasional (5-29%)HP:0001310

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Deglutition disorder

Occasional (5-29%)HP:0002015

Dystonic movements

Occasional (5-29%)HP:0001332

Epilepsy

Occasional (5-29%)HP:0001250

Eye movement issue

Occasional (5-29%)HP:0000496

Incoordination

Occasional (5-29%)HP:0002311

Intellectual impairment

Occasional (5-29%)HP:0100543

Legal blindness

Occasional (5-29%)HP:0000618

Peripheral axonal neuropathy

Occasional (5-29%)HP:0003477

Related Conditions

Autosomal dominant hereditary disorder(parent)

Multiple system malformation syndrome(parent)

Early onset cerebellar ataxia(parent)

Hearing loss associated with syndrome(parent)

Inherited optic neuropathy(parent)

Hereditary ataxia(parent)

Disorder of ear(parent)

Developmental hereditary disorder(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 720634003
UMLS CUI: C1832466
Fully Specified Name: Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss 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.