← Back to Conditions

Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation

disorder
SNOMED 1177169004CUI C5567894

Overview

Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation 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.

Cerebellar tremor
Frequent (30-79%)HP:0002080
Delayed gross motor development
Frequent (30-79%)HP:0002194
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Febrile seizure (within the age range of 3 months to 6 years)
Frequent (30-79%)HP:0002373
Fine motor skill dysfunction
Frequent (30-79%)HP:0007010
Frequent falls
Frequent (30-79%)HP:0002359
Gait disturbance
Frequent (30-79%)HP:0001288
Inability to coordinate movements when walking
Frequent (30-79%)HP:0002066
Infratentorial atrophy
Frequent (30-79%)HP:0001272
Neurodevelopmental abnormality
Frequent (30-79%)HP:0012759
Truncal hypotonia
Frequent (30-79%)HP:0008936
Vermian atrophy
Frequent (30-79%)HP:0006855
Wide based walk
Frequent (30-79%)HP:0002136
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Liver dysfunction, mild
Occasional (5-29%)HP:0001410

Related Conditions

Developmental hereditary disorder(parent)
Hereditary ataxia(parent)
Cerebellar ataxia(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital cerebellar hypoplasia(parent)
Genetic intellectual disability(parent)

Quick Facts

SNOMED CT
1177169004
UMLS CUI
C5567894
Fully Specified Name
Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
15
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.