Autosomal recessive posterior column ataxia and retinitis pigmentosa

disorder

SNOMED 724065003CUI C1836916

Overview

Autosomal recessive posterior column ataxia and retinitis pigmentosa 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

Distal sensory loss, especially vibratory sense

Very frequent (80-99%)HP:0002166

Impaired proprioception

Very frequent (80-99%)HP:0010831

Abnormal peripheral nerve morphology by anatomical site

Frequent (30-79%)HP:0045010

Axonal degeneration

Frequent (30-79%)HP:0040078

Fundus with peripheral bony spicules

Frequent (30-79%)HP:0007737

Gait disturbance

Frequent (30-79%)HP:0001288

Generalised decreased muscle tone

Frequent (30-79%)HP:0001290

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Night blindness

Frequent (30-79%)HP:0000662

Retinal pigmentary degeneration

Frequent (30-79%)HP:0000580

Rod-cone dystrophy

Frequent (30-79%)HP:0000510

Visual loss

Frequent (30-79%)HP:0000572

Abnormal sensory nerve conduction velocity

Occasional (5-29%)HP:0040132

Absent tendon reflexes

Occasional (5-29%)HP:0001284

Bone infection

Occasional (5-29%)HP:0002754

Camptodactyly

Occasional (5-29%)HP:0012385

Chronic pain

Occasional (5-29%)HP:0012532

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Delayed ability to walk

Occasional (5-29%)HP:0031936

Delayed gross motor development

Occasional (5-29%)HP:0002194

Epilepsy

Occasional (5-29%)HP:0001250

Flexion deformity of finger

Occasional (5-29%)HP:0012785

GI dysmotility

Occasional (5-29%)HP:0002579

Hunched back

Occasional (5-29%)HP:0002808

Lens opacities

Occasional (5-29%)HP:0000518

Low intelligence

Occasional (5-29%)HP:0001249

Muscle spasm

Occasional (5-29%)HP:0003394

Positive Romberg sign

Occasional (5-29%)HP:0002403

Spinal cord pathology

Occasional (5-29%)HP:0002143

Related Conditions

Early onset cerebellar ataxia(parent)

Autosomal recessive retinitis pigmentosa(parent)

Hereditary ataxia(parent)

Quick Facts

SNOMED CT: 724065003
UMLS CUI: C1836916
Fully Specified Name: Autosomal recessive posterior column ataxia and retinitis pigmentosa (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.