PAFAH1B1-related lissencephaly

disorder

SNOMED 770560008CUI C4749301

Overview

PAFAH1B1-related lissencephaly 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.

Epilepsy

Very frequent (80-99%)HP:0001250

Infantile spasms

Very frequent (80-99%)HP:0012469

Thick cerebral cortex

Very frequent (80-99%)HP:0006891

Agyria diffuse

Frequent (30-79%)HP:0031882

Anterior predominant thick cortex pachygyria

Frequent (30-79%)HP:0020191

Cerebral pachygyria

Frequent (30-79%)HP:0001302

Corpus callosum abnormality

Frequent (30-79%)HP:0001273

Delay in head control

Frequent (30-79%)HP:0002421

Delayed ability to sit

Frequent (30-79%)HP:0025336

Dilated cerebral perivascular spaces

Frequent (30-79%)HP:0012520

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Dysgyria

Frequent (30-79%)HP:0032398

EEG with spike-wave complexes

Frequent (30-79%)HP:0010850

Epileptic encephalopathy

Frequent (30-79%)HP:0200134

Feeding difficulties

Frequent (30-79%)HP:0011968

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Impaired smooth pursuit

Frequent (30-79%)HP:0007772

Language impairment

Frequent (30-79%)HP:0002463

Large cavum septi pellucidi

Frequent (30-79%)HP:0002389

Mental retardation, severe

Frequent (30-79%)HP:0010864

Microcephaly, progressive

Frequent (30-79%)HP:0000253

Neurodevelopmental delay

Frequent (30-79%)HP:0012758

Quadriplegia

Frequent (30-79%)HP:0002445

Truncal hypotonia

Frequent (30-79%)HP:0008936

Arc de cercle

Occasional (5-29%)HP:0002179

Aspiration pneumonia

Occasional (5-29%)HP:0011951

Atypical absence

Occasional (5-29%)HP:0007270

Drop attacks

Occasional (5-29%)HP:0010819

EEG with changes in voltage

Occasional (5-29%)HP:0011201

Generalised tonic seizures

Occasional (5-29%)HP:0010818

Related Conditions

Type 1 lissencephaly(parent)

Congenital anomaly of cerebrum(parent)

Quick Facts

SNOMED CT: 770560008
UMLS CUI: C4749301
Fully Specified Name: Lissencephaly due to LIS1 mutation (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.