Polymicrogyria with optic nerve hypoplasia

disorder

SNOMED 771336003CUI C2750798

Overview

Polymicrogyria with optic nerve hypoplasia 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.

Abnormality of the nervous system

Very frequent (80-99%)HP:0000707

Colpocephaly

Very frequent (80-99%)HP:0030048

Congenital hypotonia

Very frequent (80-99%)HP:0001319

Hypoplastic optic nerves

Very frequent (80-99%)HP:0000609

Hyporeflexia

Very frequent (80-99%)HP:0001265

More grooves in brain

Very frequent (80-99%)HP:0002126

No speech development

Very frequent (80-99%)HP:0001344

Seizures

Very frequent (80-99%)HP:0001250

Severe psychomotor retardation

Very frequent (80-99%)HP:0011344

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Dysplasia of corpus callosum

Occasional (5-29%)HP:0006989

Hypoplasia of the brainstem

Occasional (5-29%)HP:0002365

Infantile spasms

Occasional (5-29%)HP:0012469

Related Conditions

Hypoplasia of the optic nerve(parent)

Bilateral polymicrogyria(parent)

Recessive hereditary disorder (autosomal)(parent)

Inherited optic neuropathy(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 771336003
UMLS CUI: C2750798
Fully Specified Name: Polymicrogyria with optic nerve hypoplasia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.