ANOAC (axonal neuropathy, optic atrophy, cognitive deficit) syndrome

disorder

SNOMED 1260129000CUI C5680002

Overview

ANOAC (axonal neuropathy, optic atrophy, cognitive deficit) 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.

Abnormal peripheral action potential amplitude

Frequent (30-79%)HP:0030179

Cryptorchidism

Frequent (30-79%)HP:0000028

Decreased nerve conduction velocity

Frequent (30-79%)HP:0000762

Distal motor neuropathy

Frequent (30-79%)HP:0007002

Dyskinesia

Frequent (30-79%)HP:0100660

Dystonic movements

Frequent (30-79%)HP:0001332

Electroencephalogram abnormal

Frequent (30-79%)HP:0002353

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Foot joint contracture

Frequent (30-79%)HP:0008366

Functional motor deficit

Frequent (30-79%)HP:0004302

Gastroesophageal reflux disease

Frequent (30-79%)HP:0002020

Gastrostomy tube feeding in infancy

Frequent (30-79%)HP:0011471

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Glaucoma

Frequent (30-79%)HP:0000501

Horizontal supranuclear gaze palsy

Frequent (30-79%)HP:0007817

Hypotonia, early

Frequent (30-79%)HP:0008947

Inability to walk

Frequent (30-79%)HP:0002540

Irritability

Frequent (30-79%)HP:0000737

Mental and motor retardation

Frequent (30-79%)HP:0001263

Neurogenic muscle atrophy, especially in the lower limbs

Frequent (30-79%)HP:0003202

Nonverbal

Frequent (30-79%)HP:0001344

Optic atrophy

Frequent (30-79%)HP:0000648

Sensory axonal neuropathy

Frequent (30-79%)HP:0003390

Severe psychomotor retardation

Frequent (30-79%)HP:0011344

Supratentorial atrophy

Frequent (30-79%)HP:0002059

Premature pubarche

Occasional (5-29%)HP:0012411

Related Conditions

Chronic nervous system disease(parent)

Hereditary optic atrophy(parent)

Developmental hereditary disorder(parent)

Hereditary motor and sensory neuropathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Axonal neuropathy(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1260129000
UMLS CUI: C5680002
Fully Specified Name: Infantile-onset axonal motor and sensory neuropathy, optic atrophy, neurodegenerative syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

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.