Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

disorder

SNOMED 784344009CUI C5191309

Overview

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 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.

Seizures

Always present (100%)HP:0001250

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Abnormality of the cerebellar vermis

Frequent (30-79%)HP:0002334

Bilateral ptosis

Frequent (30-79%)HP:0001488

Cobblestone lissencephaly

Frequent (30-79%)HP:0007260

Cortical gyral simplification

Frequent (30-79%)HP:0009879

Deficit in expressive language

Frequent (30-79%)HP:0002474

Delayed ability to sit

Frequent (30-79%)HP:0025336

Delayed fine motor development

Frequent (30-79%)HP:0010862

Delayed gross motor development

Frequent (30-79%)HP:0002194

Difficulty speaking

Frequent (30-79%)HP:0002465

Esotropia

Frequent (30-79%)HP:0000565

Eye movement issue

Frequent (30-79%)HP:0000496

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Fewer or absent grooves in brain

Frequent (30-79%)HP:0001339

Growth delay as children

Frequent (30-79%)HP:0008897

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Hypoplasia of the brainstem

Frequent (30-79%)HP:0002365

Inability to walk

Frequent (30-79%)HP:0002540

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

More grooves in brain

Frequent (30-79%)HP:0002126

Partial or complete agenesis of corpus callosum

Frequent (30-79%)HP:0001338

Poor school performance

Frequent (30-79%)HP:0001249

Severe psychomotor retardation

Frequent (30-79%)HP:0011344

Small cerebellum

Frequent (30-79%)HP:0001321

Spastic ataxia

Frequent (30-79%)HP:0002497

Squint

Frequent (30-79%)HP:0000486

Truncal hypotonia

Frequent (30-79%)HP:0008936

Abnormal best corrected visual acuity test

Occasional (5-29%)HP:0030534

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Cortical dysplasia(parent)

Congenital pontocerebellar hypoplasia(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 784344009
UMLS CUI: C5191309
Fully Specified Name: Cortical dysgenesis with pontocerebellar hypoplasia due to tubulin beta 3 class III 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.