Ocular anomalies, axonal neuropathy, developmental delay syndrome

disorder

SNOMED 1172586007CUI C4310677

Overview

Ocular anomalies, axonal neuropathy, developmental delay 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.

Muscular hypotonia

Always present (100%)HP:0001252

Cognitive delay

Very frequent (80-99%)HP:0001263

Mental deficiency

Very frequent (80-99%)HP:0001249

Truncal hypotonia

Very frequent (80-99%)HP:0008936

Axonal neuropathy

Frequent (30-79%)HP:0003477

Higher than normal levels of lactate in blood

Frequent (30-79%)HP:0002151

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Lower limb amyotrophy

Frequent (30-79%)HP:0007210

Problems speaking

Frequent (30-79%)HP:0002465

Reduced brain N-acetyl aspartate level by MRS

Frequent (30-79%)HP:0012708

Spastic walk

Frequent (30-79%)HP:0002064

Speech and language difficulties

Frequent (30-79%)HP:0000750

3-Methylglutaconic aciduria

Occasional (5-29%)HP:0003535

Abnormal formation of the hip

Occasional (5-29%)HP:0001385

Cardiomyopathy, hypertrophic

Occasional (5-29%)HP:0001639

Cataract

Occasional (5-29%)HP:0000518

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Congenital cataracts, bilateral

Occasional (5-29%)HP:0000519

Cryptorchidism

Occasional (5-29%)HP:0000028

Delayed puberty

Occasional (5-29%)HP:0000823

Distal muscle atrophy, upper and lower limbs

Occasional (5-29%)HP:0003693

Dystonic disease

Occasional (5-29%)HP:0001332

Enophthalmos

Occasional (5-29%)HP:0000490

Esotropia

Occasional (5-29%)HP:0000565

Feeding difficulties

Occasional (5-29%)HP:0011968

Frontal protuberance

Occasional (5-29%)HP:0002007

Generalized non-motor (absence) seizure

Occasional (5-29%)HP:0002121

High forehead

Occasional (5-29%)HP:0000348

Hypertrophy of mandible

Occasional (5-29%)HP:0000303

Hypoplastic mandible

Occasional (5-29%)HP:0000347

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Global developmental delay(parent)

Mitochondrial cytopathy(parent)

Inherited optic neuropathy(parent)

Developmental hereditary disorder(parent)

Axonal neuropathy(parent)

Optic atrophy(parent)

Quick Facts

SNOMED CT: 1172586007
UMLS CUI: C4310677
Fully Specified Name: Ocular anomalies, axonal neuropathy, developmental delay 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.