Autosomal dominant optic atrophy plus syndrome

disorder

SNOMED 715374003CUI C3276549

Overview

Autosomal dominant optic atrophy plus 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.

Blind spot located at fixation point

Always present (100%)HP:0000603

Dyschromatopsia

Always present (100%)HP:0007641

Poor vision

Always present (100%)HP:0000505

Decreased visual acuity, progressive

Very frequent (80-99%)HP:0000529

Optic atrophy

Very frequent (80-99%)HP:0000648

Abnormal retinal nerve fiber layer morphology

Frequent (30-79%)HP:0020119

Abnormal visual evoked responses

Frequent (30-79%)HP:0000649

Bilateral ptosis

Frequent (30-79%)HP:0001488

EMG: impaired neuromuscular transmission

Frequent (30-79%)HP:0100285

External ophthalmoplegia, progressive

Frequent (30-79%)HP:0000590

Limb-girdle muscle weakness

Frequent (30-79%)HP:0003325

Mitochondrial myopathy

Frequent (30-79%)HP:0003737

Myopathy

Frequent (30-79%)HP:0003198

No auditory brainstem response

Frequent (30-79%)HP:0004463

Sensorineural deafness

Frequent (30-79%)HP:0000407

Tiredness

Frequent (30-79%)HP:0012378

Absent Achilles reflex

Occasional (5-29%)HP:0003438

Ataxia

Occasional (5-29%)HP:0001251

Constriction of peripheral visual field

Occasional (5-29%)HP:0001133

Distal motor neuropathy

Occasional (5-29%)HP:0007002

EMG: chronic denervation signs

Occasional (5-29%)HP:0003444

Gait disturbance

Occasional (5-29%)HP:0001288

Involuntary muscle stiffness, contraction, or spasm

Occasional (5-29%)HP:0001257

Pes cavus

Occasional (5-29%)HP:0001761

Sensory neuropathy

Occasional (5-29%)HP:0000763

Spastic paraplegia

Occasional (5-29%)HP:0001258

Temporal optic disc pallor

Occasional (5-29%)HP:0012511

Diabetes mellitus

Very rare (1-4%)HP:0000819

Disease of the heart muscle

Very rare (1-4%)HP:0001638

Migraine headache

Very rare (1-4%)HP:0002076

Related Conditions

Dominant hereditary optic atrophy(parent)

Mitochondrial cytopathy(parent)

Quick Facts

SNOMED CT: 715374003
UMLS CUI: C3276549
Fully Specified Name: Autosomal dominant optic atrophy plus syndrome (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.