Lissencephaly type 2 without muscular or ocular involvement

disorder

SNOMED 785299009CUI C5191415

Overview

Lissencephaly type 2 without muscular or ocular involvement 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 myelination

Frequent (30-79%)HP:0012447

Abnormality of the cerebral white matter

Frequent (30-79%)HP:0002500

Cobblestone lissencephaly

Frequent (30-79%)HP:0007260

Dysgyria

Frequent (30-79%)HP:0032398

Global developmental delay, severe

Frequent (30-79%)HP:0011344

Gray matter heterotopias

Frequent (30-79%)HP:0002282

Hypoplasia of the brainstem

Frequent (30-79%)HP:0002365

Nonsyndromal hydrocephalus

Frequent (30-79%)HP:0000238

Optic atrophy

Frequent (30-79%)HP:0000648

Posterior encephalocele

Frequent (30-79%)HP:0002085

Small cerebellum

Frequent (30-79%)HP:0001321

Seizures

Occasional (5-29%)HP:0001250

Related Conditions

Type 2 lissencephaly(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 785299009
UMLS CUI: C5191415
Fully Specified Name: Cobblestone lissencephaly without muscular or ocular involvement (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.