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Early-onset X-linked optic atrophy

disorder
SNOMED 721200000CUI C1839576

Overview

Early-onset X-linked optic atrophy 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
Frequent (30-79%)HP:0000603
Color vision defect, severe
Frequent (30-79%)HP:0000551
Decreased visual acuity
Frequent (30-79%)HP:0007663
Optic atrophy
Frequent (30-79%)HP:0000648
Optic disc pallor
Frequent (30-79%)HP:0000543
Progressive visual loss
Frequent (30-79%)HP:0000529
Abnormal nervous system physiology
Occasional (5-29%)HP:0012638
Asterixis
Occasional (5-29%)HP:0012164
Choreoathetoid movements
Occasional (5-29%)HP:0001266
Decreased nerve conduction velocity
Occasional (5-29%)HP:0000762
Dull intelligence
Occasional (5-29%)HP:0001249
Dysdiadochokinesis
Occasional (5-29%)HP:0002075
Emotional lability
Occasional (5-29%)HP:0000712
Inability to coordinate movements when walking
Occasional (5-29%)HP:0002066
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Terminal tremor
Occasional (5-29%)HP:0002080
Absent Achilles reflex
HP:0003438
Difficulty articulating speech
HP:0001260
Extensor plantar responses
HP:0003487
Overactive knee reflex
HP:0007083
Tremor
HP:0001337

Quick Facts

SNOMED CT
721200000
UMLS CUI
C1839576
Fully Specified Name
Early-onset X-linked optic atrophy (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
21
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.