Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

disorder

SNOMED 1237625002CUI C4015301

Overview

Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 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

Always present (100%)HP:0002070

Appendicular hypotonia

Always present (100%)HP:0012389

Ataxia

Always present (100%)HP:0001251

Degeneration of cerebellum

Always present (100%)HP:0001272

Increased reflexes

Always present (100%)HP:0001347

Mental retardation, mild

Always present (100%)HP:0001256

Muscular hypotonia

Always present (100%)HP:0001252

Poor school performance

Always present (100%)HP:0001249

Small cerebellum

Always present (100%)HP:0001321

Squint

Always present (100%)HP:0000486

Thick eyebrow

Always present (100%)HP:0000574

Tired easily

Always present (100%)HP:0003388

Wide based walk

Always present (100%)HP:0002136

Abnormality of the distal phalanx of the thumb

Frequent (30-79%)HP:0009617

Cerebellar tremor

Frequent (30-79%)HP:0002080

Cerebellar vermis hypoplasia

Frequent (30-79%)HP:0001320

Clumsiness

Frequent (30-79%)HP:0002312

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dysmetria

Frequent (30-79%)HP:0001310

Dystonic movements

Frequent (30-79%)HP:0001332

Extensor plantar responses

Frequent (30-79%)HP:0003487

Flat speech

Frequent (30-79%)HP:0031435

Frequent falls

Frequent (30-79%)HP:0002359

Horizontal nystagmus

Frequent (30-79%)HP:0000666

Hypotonia, early

Frequent (30-79%)HP:0008947

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Instability or lack of coordination of central trunk muscles

Frequent (30-79%)HP:0002078

Mental and motor retardation

Frequent (30-79%)HP:0001263

Mild microcephaly

Frequent (30-79%)HP:0040196

Moderate mental retardation

Frequent (30-79%)HP:0002342

Related Conditions

Global developmental delay(parent)

Developmental hereditary disorder(parent)

Hereditary ataxia(parent)

Chronic brain syndrome(parent)

Cerebellar ataxia(parent)

Recessive hereditary disorder (autosomal)(parent)

Genetic intellectual disability(parent)

Hereditary cerebellar atrophy(parent)

Quick Facts

SNOMED CT: 1237625002
UMLS CUI: C4015301
Fully Specified Name: Autosomal recessive cerebellar ataxia due to CWF19 like cell cycle control factor 1 deficiency (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.