Spinocerebellar ataxia, amyotrophy, deafness syndrome

disorder

SNOMED 782690007CUI C2931587

Overview

Spinocerebellar ataxia, amyotrophy, deafness 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.

Abnormal electromyography finding

Very frequent (80-99%)HP:0003457

Anomaly of the testes

Very frequent (80-99%)HP:0000035

Ataxia

Very frequent (80-99%)HP:0001251

Decreased body height

Very frequent (80-99%)HP:0004322

Delayed puberty

Very frequent (80-99%)HP:0000823

Impaired pain sensation

Very frequent (80-99%)HP:0007328

Increased reflexes

Very frequent (80-99%)HP:0001347

Neurogenic muscle atrophy, especially in the lower limbs

Very frequent (80-99%)HP:0003202

Paralysis or weakness of one side of body

Very frequent (80-99%)HP:0004374

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Hypopigmented skin patches

Frequent (30-79%)HP:0001053

Hypoplasia of penis

Frequent (30-79%)HP:0008736

Mental-retardation

Frequent (30-79%)HP:0001249

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hearing loss associated with syndrome(parent)

Cerebellar ataxia(parent)

Chronic brain syndrome(parent)

Hereditary ataxia(parent)

Sensorineural hearing loss(parent)

Hereditary degenerative disease of central nervous system(parent)

Chronic deafness(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 782690007
UMLS CUI: C2931587
Fully Specified Name: Gemignani syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.