Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia syndrome

disorder

SNOMED 763312008CUI C4706388

Overview

Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia 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.

Corticospinal signs

Very frequent (80-99%)HP:0007256

Defective or absent horizontal voluntary eye movements

Very frequent (80-99%)HP:0000657

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Progressive cerebellar ataxia

Very frequent (80-99%)HP:0002073

Decreased body height

Frequent (30-79%)HP:0004322

Diffuse cerebellar atrophy

Frequent (30-79%)HP:0100275

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Dysdiadochokinesis

Frequent (30-79%)HP:0002075

Dysmetria

Frequent (30-79%)HP:0001310

Esotropia

Frequent (30-79%)HP:0000565

Eye drop

Frequent (30-79%)HP:0000508

Fallen arches

Frequent (30-79%)HP:0001763

Gait ataxia, progressive

Frequent (30-79%)HP:0007240

Gait disturbance

Frequent (30-79%)HP:0001288

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Horizontal nystagmus

Frequent (30-79%)HP:0000666

Hypometric saccades

Frequent (30-79%)HP:0000571

Mental retardation, mild

Frequent (30-79%)HP:0001256

Optic disc pallor

Frequent (30-79%)HP:0000543

Poor growth

Frequent (30-79%)HP:0001510

Progressive truncal ataxia

Frequent (30-79%)HP:0007221

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Rigid dysarthria

Frequent (30-79%)HP:0002464

Rotary nystagmus

Frequent (30-79%)HP:0001583

Wide based walk

Frequent (30-79%)HP:0002136

Extensor plantar responses

Occasional (5-29%)HP:0003487

Increased reflexes

Occasional (5-29%)HP:0001347

Mental retardation, severe

Occasional (5-29%)HP:0010864

Multiple joint contractures

Occasional (5-29%)HP:0002828

Poor speech

Occasional (5-29%)HP:0002465

Related Conditions

Amino acid transport disorder(parent)

Congenital disease(parent)

Cerebellar ataxia(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary ataxia(parent)

Quick Facts

SNOMED CT: 763312008
UMLS CUI: C4706388
Fully Specified Name: Autosomal recessive cerebellar ataxia, pyramidal signs, nystagmus, oculomotor apraxia 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.