Autosomal recessive cerebellar ataxia, psychomotor delay syndrome

disorder

SNOMED 783060009CUI C5190803

Overview

Autosomal recessive cerebellar ataxia, psychomotor delay 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.

Appendicular ataxia

Very frequent (80-99%)HP:0002070

Ataxia

Very frequent (80-99%)HP:0001251

Difficulty articulating speech

Very frequent (80-99%)HP:0001260

Gait disturbance

Very frequent (80-99%)HP:0001288

Impaired smooth pursuit ocular movements

Very frequent (80-99%)HP:0000617

Infratentorial atrophy

Very frequent (80-99%)HP:0001272

Instability or lack of coordination of central trunk muscles

Very frequent (80-99%)HP:0002078

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental-retardation

Very frequent (80-99%)HP:0001249

Abnormal visual pursuit

Frequent (30-79%)HP:0007772

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Nystagmus, horizontal, gaze-evoked

Frequent (30-79%)HP:0007979

Unsteady walk

Frequent (30-79%)HP:0002317

Vermian atrophy

Frequent (30-79%)HP:0006855

Deglutition disorder

Occasional (5-29%)HP:0002015

Related Conditions

Chronic brain syndrome(parent)

Late onset cerebellar ataxia(parent)

Recessive hereditary disorder (autosomal)(parent)

Spinocerebellar ataxia(parent)

Chronic disorder of spinal cord(parent)

Quick Facts

SNOMED CT: 783060009
UMLS CUI: C5190803
Fully Specified Name: Autosomal recessive cerebellar ataxia, psychomotor delay syndrome (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.