Oculomotor apraxia - Cogan type

disorder

SNOMED 405809000CUI C0543874

Overview

Oculomotor apraxia - Cogan type 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.

Ataxia

Very frequent (80-99%)HP:0001251

Defective or absent horizontal voluntary eye movements

Very frequent (80-99%)HP:0000657

Cerebellar vermis aplasia or hypoplasia

Frequent (30-79%)HP:0006817

Delayed motor milestones

Frequent (30-79%)HP:0001270

Impaired horizontal visual pursuit

Frequent (30-79%)HP:0001151

Jerky head movements

Frequent (30-79%)HP:0006961

Molar tooth sign

Frequent (30-79%)HP:0002419

Specific learning disability

Frequent (30-79%)HP:0001328

Speech difficulties

Frequent (30-79%)HP:0000750

Clumsiness

Occasional (5-29%)HP:0002312

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Mental deficiency

Occasional (5-29%)HP:0001249

Peripheral hypotonia

Occasional (5-29%)HP:0001252

Seizures

Occasional (5-29%)HP:0001250

Squint

Occasional (5-29%)HP:0000486

Horizontal opticokinetic nystagmus

HP:0008026

Nephronophthisis

HP:0000090

Related Conditions

Oculomotor apraxia(parent)

Hereditary disorder of the visual system(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital anomaly of visual system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 405809000
UMLS CUI: C0543874
Fully Specified Name: Ocular motor apraxia Cogan type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 17

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.