Brain stem asymmetry, superior cerebellar and basal ganglia dysplasia syndrome

disorder

SNOMED 1187215002CUI C5568850

Overview

Brain stem asymmetry, superior cerebellar and basal ganglia dysplasia syndrome 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.

Abnormal thalamus morphology

Very frequent (80-99%)HP:0010663

Abnormality of brainstem morphology

Very frequent (80-99%)HP:0002363

Abnormality of the internal capsule

Very frequent (80-99%)HP:0012502

Cerebellar vermis hypoplasia

Very frequent (80-99%)HP:0001320

Corpus callosum abnormality

Very frequent (80-99%)HP:0001273

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Dysgyria

Very frequent (80-99%)HP:0032398

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Pontine hypoplasia

Very frequent (80-99%)HP:0012110

Abnormal involuntary eye movements

Frequent (30-79%)HP:0012547

Abnormal morphology of the olfactory bulb

Frequent (30-79%)HP:0040327

Agyria diffuse

Frequent (30-79%)HP:0031882

Cerebral pachygyria

Frequent (30-79%)HP:0001302

Childhood attention deficit/hyperactivity disorder

Frequent (30-79%)HP:0007018

Defective or absent horizontal voluntary eye movements

Frequent (30-79%)HP:0000657

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Squint

Frequent (30-79%)HP:0000486

Ataxia

Occasional (5-29%)HP:0001251

Big calvaria

Occasional (5-29%)HP:0000256

Bilateral ptosis

Occasional (5-29%)HP:0001488

Generalized non-motor (absence) seizure

Occasional (5-29%)HP:0002121

Infantile spasms

Occasional (5-29%)HP:0012469

Peripheral hypotonia

Occasional (5-29%)HP:0001252

Startle-induced seizure

Occasional (5-29%)HP:0020214

Related Conditions

Dysgenesis of the cerebellum(parent)

Lesion of brain(parent)

Congenital anomaly of cerebrum(parent)

Disorder of basal ganglia(parent)

Genetic disease(parent)

Quick Facts

SNOMED CT: 1187215002
UMLS CUI: C5568850
Fully Specified Name: Tubulinopathy-associated dysgyria (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.