Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1

disorder

SNOMED 715366004CUI C1859598

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Decreased distal vibration sense

Always present (100%)HP:0006886

Distal muscle atrophy, upper and lower limbs

Always present (100%)HP:0003693

Absent tendon reflexes

Very frequent (80-99%)HP:0001284

Ataxia

Very frequent (80-99%)HP:0001251

Brain and/or spinal cord issue

Very frequent (80-99%)HP:0000707

Defective or absent horizontal voluntary eye movements

Very frequent (80-99%)HP:0000657

Gait disturbance

Very frequent (80-99%)HP:0001288

Loss of distal sensation

Very frequent (80-99%)HP:0002936

Medially flared eyebrows

Very frequent (80-99%)HP:0010747

Peripheral neuropathy

Very frequent (80-99%)HP:0009830

Choreatic disease

Frequent (30-79%)HP:0002072

Dystonic disease

Frequent (30-79%)HP:0001332

Elevated serum cholesterol

Frequent (30-79%)HP:0003124

Elevated serum creatine phosphokinase

Frequent (30-79%)HP:0003236

Impaired executive functioning

Frequent (30-79%)HP:0033051

Loss of ambulation

Frequent (30-79%)HP:0002505

Pes cavus

Frequent (30-79%)HP:0001761

Scoliosis

Frequent (30-79%)HP:0002650

Intellectual deterioration

Occasional (5-29%)HP:0001268

Appendicular ataxia

HP:0002070

Axonal degeneration

HP:0040078

Cognitive deficits

HP:0100543

Degeneration of cerebellum

HP:0001272

Difficulty articulating speech

HP:0001260

External ophthalmoplegia, progressive

HP:0000590

Gaze-evoked nystagmus

HP:0000640

Hypoalbuminaemia

HP:0003073

Hypometric saccades

HP:0000571

Hyporeflexia

HP:0001265

Inability to coordinate movements when walking

HP:0002066

Related Conditions

Cerebellar ataxia(parent)

Recessive hereditary disorder (autosomal)(parent)

Oculomotor apraxia(parent)

Hereditary disorder of the visual system(parent)

Hereditary ataxia(parent)

Quick Facts

SNOMED CT: 715366004
UMLS CUI: C1859598
Fully Specified Name: Autosomal recessive cerebellar ataxia with oculomotor apraxia type 1 (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.