Gamma-aminobutyric acid transaminase deficiency

disorder

SNOMED 237941007CUI C0342708

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Epileptic encephalopathy

Always present (100%)HP:0200134

Feeding difficulties

Always present (100%)HP:0011968

Psychomotor development deficiency

Always present (100%)HP:0001263

Dysmyelination of the brain

Very frequent (80-99%)HP:0007266

Electroencephalogram abnormal

Very frequent (80-99%)HP:0002353

Elevated circulating gamma-aminobutyric acid concentration

Very frequent (80-99%)HP:0410053

Elevated CSF gamma-aminobutyric acid concentration

Very frequent (80-99%)HP:0032531

Increased urinary excretion of gamma-aminobutyric acid (GABA)

Very frequent (80-99%)HP:0500253

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Severe psychomotor retardation

Very frequent (80-99%)HP:0011344

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Accelerated linear growth

Frequent (30-79%)HP:0000098

Cerebral atrophy

Frequent (30-79%)HP:0002059

Choreoathetosis

Frequent (30-79%)HP:0001266

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

EEG with burst suppression

Frequent (30-79%)HP:0010851

Elevated circulating growth hormone concentration

Frequent (30-79%)HP:0000845

Excessive daytime somnolence

Frequent (30-79%)HP:0001262

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

High-pitched cry

Frequent (30-79%)HP:0025430

Increased reflexes

Frequent (30-79%)HP:0001347

Leukodystrophy

Frequent (30-79%)HP:0002415

Posterior fossa cyst

Frequent (30-79%)HP:0007291

Progressive psychomotor deterioration

Frequent (30-79%)HP:0007272

Retrognathia

Frequent (30-79%)HP:0000278

Seizures

Frequent (30-79%)HP:0001250

Small cerebellum

Frequent (30-79%)HP:0001321

Undergrowth

Frequent (30-79%)HP:0001508

Corpus callosum abnormality

Occasional (5-29%)HP:0001273

Degeneration of cerebellum

Occasional (5-29%)HP:0001272

Related Conditions

Disorder of the gamma-glutamyl cycle(parent)

Disorder of gamma aminobutyric acid metabolism(parent)

Quick Facts

SNOMED CT: 237941007
UMLS CUI: C0342708
Fully Specified Name: Gamma-aminobutyric acid transaminase deficiency (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.