Isolated lissencephaly type 1 without known genetic defect

disorder

SNOMED 715406003CUI C4275151

Overview

Isolated lissencephaly type 1 without known genetic defect 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.

Agyria diffuse

Frequent (30-79%)HP:0031882

Cerebral pachygyria

Frequent (30-79%)HP:0001302

Congenital hypotonia

Frequent (30-79%)HP:0001319

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

EEG with changes in voltage

Frequent (30-79%)HP:0011201

Enlarged lateral sulcus

Frequent (30-79%)HP:0100952

Epilepsy

Frequent (30-79%)HP:0001250

Feeding difficulties

Frequent (30-79%)HP:0011968

Gray matter heterotopias

Frequent (30-79%)HP:0002282

Hypsarrhythmia by EEG

Frequent (30-79%)HP:0002521

Infantile spasms

Frequent (30-79%)HP:0012469

Intellectual disability, profound

Frequent (30-79%)HP:0002187

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Mental retardation, severe

Frequent (30-79%)HP:0010864

Motor seizure

Frequent (30-79%)HP:0020219

Neurodevelopmental delay

Frequent (30-79%)HP:0012758

Truncal hypotonia

Frequent (30-79%)HP:0008936

Related Conditions

Type 1 lissencephaly(parent)

Quick Facts

SNOMED CT: 715406003
UMLS CUI: C4275151
Fully Specified Name: Isolated lissencephaly type 1 without known genetic defect (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 17

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.