Lissencephaly due to tubulin alpha 1A mutation

disorder

SNOMED 718759003CUI C4305153

Overview

Lissencephaly due to tubulin alpha 1A mutation 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.

Dilated cerebral ventricle

Very frequent (80-99%)HP:0002119

Dysgenesis of the basal ganglia

Very frequent (80-99%)HP:0025102

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Cerebellar vermis hypoplasia

Frequent (30-79%)HP:0001320

Decreased size of cranium

Frequent (30-79%)HP:0000252

Dilated fourth ventricle

Frequent (30-79%)HP:0002198

Epilepsy

Frequent (30-79%)HP:0001250

Fewer or absent grooves in brain

Frequent (30-79%)HP:0001339

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Hippocampal dysgenesis

Frequent (30-79%)HP:0025101

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Hypoplasia of the brainstem

Frequent (30-79%)HP:0002365

Hypoplastic anterior limbs of the internal capsule

Frequent (30-79%)HP:0034051

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Retromicrognathia

Frequent (30-79%)HP:0000308

Spastic quadriplegia

Frequent (30-79%)HP:0002510

Squint

Frequent (30-79%)HP:0000486

Agyria diffuse

Occasional (5-29%)HP:0031882

Cerebral pachygyria

Occasional (5-29%)HP:0001302

Double ring sign

Occasional (5-29%)HP:0000609

Dysplasia of corpus callosum

Occasional (5-29%)HP:0006989

Focal seizures

Occasional (5-29%)HP:0007359

Frontoparietal polymicrogyria

Occasional (5-29%)HP:0012650

Generalised tonic seizures

Occasional (5-29%)HP:0010818

Hypoplastic hippocampus

Occasional (5-29%)HP:0025517

Infantile spasms

Occasional (5-29%)HP:0012469

Involuntary, rapid, rhythmic eye movements

Occasional (5-29%)HP:0000639

Partial or complete agenesis of corpus callosum

Occasional (5-29%)HP:0001338

Periventricular laminar heterotopia

Occasional (5-29%)HP:0032389

Related Conditions

Autosomal dominant hereditary disorder(parent)

Lissencephaly(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 718759003
UMLS CUI: C4305153
Fully Specified Name: Lissencephaly due to tubulin alpha 1A 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.