Spinocerebellar ataxia autosomal recessive type 23

disorder

SNOMED 773498006CUI C4750914

Overview

Spinocerebellar ataxia autosomal recessive type 23 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.

Funny looking face

Very frequent (80-99%)HP:0001999

Low intelligence

Very frequent (80-99%)HP:0001249

Seizures

Very frequent (80-99%)HP:0001250

Ataxia

Frequent (30-79%)HP:0001251

Generalised decreased muscle tone

Occasional (5-29%)HP:0001290

Wide cranium shape

Occasional (5-29%)HP:0000248

Cardiac arrhythmias

HP:0011675

Decreased size of cranium

HP:0000252

Excessive daytime somnolence

HP:0001262

Hyponatremia

HP:0002902

Neutropoenia

HP:0001875

Tired easily

HP:0003388

Related Conditions

Chronic brain syndrome(parent)

Hereditary ataxia(parent)

Recessive hereditary disorder (autosomal)(parent)

Generalized epilepsy(parent)

Cerebellar ataxia(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773498006
UMLS CUI: C4750914
Fully Specified Name: Autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to TUD deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.