Autosomal dominant optic atrophy classic form

disorder

SNOMED 717336005CUI C0338508

Overview

Autosomal dominant optic atrophy classic form 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.

Optic atrophy

Very frequent (80-99%)HP:0000648

Poor vision

Very frequent (80-99%)HP:0000505

Color vision defects

Frequent (30-79%)HP:0000551

External ophthalmoplegia, progressive

Frequent (30-79%)HP:0000590

Eye muscle paralysis

Frequent (30-79%)HP:0000602

Moderate vision loss

Frequent (30-79%)HP:0030515

Morning glory anomaly

Frequent (30-79%)HP:0025514

Nerve damage causing decreased feeling and movement

Frequent (30-79%)HP:0007141

Proximal neurogenic muscle weakness

Frequent (30-79%)HP:0003701

Sensorineural deafness

Frequent (30-79%)HP:0000407

Temporal optic disc pallor

Frequent (30-79%)HP:0012511

Ataxia

Occasional (5-29%)HP:0001251

Blind spot located at fixation point

Occasional (5-29%)HP:0000603

Eyelid ptosis

Occasional (5-29%)HP:0000508

Gait disturbance

Occasional (5-29%)HP:0001288

Horizontal nystagmus

Occasional (5-29%)HP:0000666

Myopathy

Occasional (5-29%)HP:0003198

Squint

Occasional (5-29%)HP:0000486

Abnormality of the periventricular white matter

Very rare (1-4%)HP:0002518

Areflexia

Very rare (1-4%)HP:0001284

Atrophy of the corpus callosum

Very rare (1-4%)HP:0007371

Basal ganglion calcification

Very rare (1-4%)HP:0002135

Brainstem atrophy

Very rare (1-4%)HP:0007366

Decreased activity of gonads

Very rare (1-4%)HP:0000135

Deglutition disorder

Very rare (1-4%)HP:0002015

Diabetes mellitus

Very rare (1-4%)HP:0000819

Duane anomaly

Very rare (1-4%)HP:0009921

Feeding difficulties

Very rare (1-4%)HP:0011968

Hemiparesis

Very rare (1-4%)HP:0001269

Hypothyroidism

Very rare (1-4%)HP:0000821

Related Conditions

Dominant hereditary optic atrophy(parent)

Quick Facts

SNOMED CT: 717336005
UMLS CUI: C0338508
Fully Specified Name: Autosomal dominant optic atrophy classic form (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.