Polymicrogyria due to TUBB2B mutation

disorder

SNOMED 1208935007CUI C5681081

Overview

Polymicrogyria due to TUBB2B 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.

Cortical dysplasia

Very frequent (80-99%)HP:0002539

Intellectual impairment

Very frequent (80-99%)HP:0100543

More grooves in brain

Very frequent (80-99%)HP:0002126

Decreased size of cranium

Frequent (30-79%)HP:0000252

Hemiparesis

Frequent (30-79%)HP:0001269

Mental and motor retardation

Frequent (30-79%)HP:0001263

Mental deficiency

Frequent (30-79%)HP:0001249

Abnormal caudate nucleus morphology

Occasional (5-29%)HP:0002339

Abnormal temper tantrums

Occasional (5-29%)HP:0025160

Abnormality of brainstem morphology

Occasional (5-29%)HP:0002363

Cerebral pachygyria

Occasional (5-29%)HP:0001302

Childhood attention deficit/hyperactivity disorder

Occasional (5-29%)HP:0007018

Corpus callosum abnormality

Occasional (5-29%)HP:0001273

Dilatation of lateral cerebral ventricles

Occasional (5-29%)HP:0006956

Dysgenesis of the basal ganglia

Occasional (5-29%)HP:0025102

Epilepsy

Occasional (5-29%)HP:0001250

Focal seizures

Occasional (5-29%)HP:0007359

Frontoparietal polymicrogyria

Occasional (5-29%)HP:0012650

Gray matter heterotopias

Occasional (5-29%)HP:0002282

Hemianopia

Occasional (5-29%)HP:0012377

Hypoplasia of corpus callosum

Occasional (5-29%)HP:0002079

Hypotonia, early

Occasional (5-29%)HP:0008947

Infratentorial atrophy

Occasional (5-29%)HP:0001272

Large cavum septi pellucidi

Occasional (5-29%)HP:0002389

Oromotor apraxia

Occasional (5-29%)HP:0007301

Pontine hypoplasia

Occasional (5-29%)HP:0012110

Squint

Occasional (5-29%)HP:0000486

Absence of corpus callosum

Very rare (1-4%)HP:0001274

Fewer or absent grooves in brain

Very rare (1-4%)HP:0001339

Schizencephaly

Very rare (1-4%)HP:0010636

Related Conditions

Autosomal dominant hereditary disorder(parent)

Disorder of neuronal migration and differentiation(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Congenital anomaly of cerebrum(parent)

Abnormal cerebral cortex morphology(parent)

Quick Facts

SNOMED CT: 1208935007
UMLS CUI: C5681081
Fully Specified Name: Polymicrogyria due to tubulin beta 2B class IIb 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.