Autosomal recessive spinocerebellar ataxia type 21

disorder

SNOMED 1187643003CUI C5569084

Overview

Autosomal recessive spinocerebellar ataxia type 21 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.

Enlarged liver

Always present (100%)HP:0002240

Hepatic bridging fibrosis

Always present (100%)HP:0012852

Large spleen

Always present (100%)HP:0001744

Muscle atrophy, neurogenic

Always present (100%)HP:0003202

Tremor

Always present (100%)HP:0001337

Weakness of outermost muscles

Always present (100%)HP:0002460

Acute liver failure

Frequent (30-79%)HP:0006554

Appendicular ataxia

Frequent (30-79%)HP:0002070

Cerebellar tremor

Frequent (30-79%)HP:0002080

Distal muscle weakness in lower limbs

Frequent (30-79%)HP:0009053

Dysmetric eye movements

Frequent (30-79%)HP:0000641

Frequent falls

Frequent (30-79%)HP:0002359

Generalised muscle wasting

Frequent (30-79%)HP:0009055

Hepatosplenomegaly

Frequent (30-79%)HP:0001433

Hyporeflexia

Frequent (30-79%)HP:0001265

Impaired pain sensation

Frequent (30-79%)HP:0007328

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Liver fibrosis

Frequent (30-79%)HP:0001395

Loss of distal sensation

Frequent (30-79%)HP:0002936

Mental retardation, mild

Frequent (30-79%)HP:0001256

Neuropathy

Frequent (30-79%)HP:0009830

No development of motor milestones

Frequent (30-79%)HP:0001270

Paresthesia

Frequent (30-79%)HP:0003401

Progressive cerebellar ataxia

Frequent (30-79%)HP:0002073

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Pyrexia

Frequent (30-79%)HP:0001945

Saccadic slow pursuit

Frequent (30-79%)HP:0001152

Sensory impairment

Frequent (30-79%)HP:0003474

Stuttering

Frequent (30-79%)HP:0025268

Vermian atrophy

Frequent (30-79%)HP:0006855

Related Conditions

Spinocerebellar ataxia(parent)

Acute liver failure(parent)

Digestive system hereditary disorder(parent)

Hereditary peripheral neuropathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Acute myelopathy(parent)

Quick Facts

SNOMED CT: 1187643003
UMLS CUI: C5569084
Fully Specified Name: Acute infantile liver failure, cerebellar ataxia, peripheral sensory motor neuropathy 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.