Non-progressive cerebellar ataxia with intellectual disability

disorder

SNOMED 723441001CUI C4509917

Overview

Non-progressive cerebellar ataxia with intellectual disability 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.

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Abnormal cortical gyration

Frequent (30-79%)HP:0002536

Abnormal finger-nose-finger test

Frequent (30-79%)HP:0001310

Abnormal social interactions

Frequent (30-79%)HP:0012433

ASD

Frequent (30-79%)HP:0000729

Ataxia

Frequent (30-79%)HP:0001251

Bulbous nose

Frequent (30-79%)HP:0000414

Congenital hypotonia

Frequent (30-79%)HP:0001319

Constipation

Frequent (30-79%)HP:0002019

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Enophthalmos

Frequent (30-79%)HP:0000490

Full lower lip

Frequent (30-79%)HP:0000179

Increased length of philtrum

Frequent (30-79%)HP:0000343

Increased nasal width

Frequent (30-79%)HP:0000445

Localized myoclonic seizure

Frequent (30-79%)HP:0011166

Memory loss

Frequent (30-79%)HP:0002354

Nonprogressive cerebellar ataxia

Frequent (30-79%)HP:0002470

Nostrils anteverted

Frequent (30-79%)HP:0000463

physical aggression

Frequent (30-79%)HP:0000718

Small cerebellum

Frequent (30-79%)HP:0001321

Small pointed chin

Frequent (30-79%)HP:0000307

Speech and language difficulties

Frequent (30-79%)HP:0000750

Squint

Frequent (30-79%)HP:0000486

Unsteady walk

Frequent (30-79%)HP:0002317

Vertical enlargement of face

Frequent (30-79%)HP:0000276

Big calvaria

Very rare (1-4%)HP:0000256

Brisk deep tendon reflexes

Very rare (1-4%)HP:0001348

Cerebellar tremor

Very rare (1-4%)HP:0002080

Cerebral cortex atrophy

Very rare (1-4%)HP:0002120

Related Conditions

Autosomal dominant hereditary disorder(parent)

Cerebellar ataxia(parent)

Hereditary ataxia(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 723441001
UMLS CUI: C4509917
Fully Specified Name: Non-progressive cerebellar ataxia with intellectual disability (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.