Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

disorder

SNOMED 770431001CUI C4749281

Overview

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A 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.

Behavioral symptoms

Frequent (30-79%)HP:0000708

Delay in head control

Frequent (30-79%)HP:0002421

EEG with multifocal slow activity

Frequent (30-79%)HP:0010844

Generalized tonic-clonic seizure (without specification of onset)

Frequent (30-79%)HP:0002069

Hypotonia, early

Frequent (30-79%)HP:0008947

Mental retardation, severe

Frequent (30-79%)HP:0010864

Profound global developmental delay

Frequent (30-79%)HP:0012736

Specific learning disability

Frequent (30-79%)HP:0001328

Abnormal involuntary eye movements

Occasional (5-29%)HP:0012547

Abnormal myelination

Occasional (5-29%)HP:0012447

Decreased body height

Occasional (5-29%)HP:0004322

Diffuse cerebral atrophy

Occasional (5-29%)HP:0002506

Dysmorphic facies

Occasional (5-29%)HP:0001999

Febrile seizure (within the age range of 3 months to 6 years)

Occasional (5-29%)HP:0002373

Focal seizures

Occasional (5-29%)HP:0007359

Generalised tonic seizures

Occasional (5-29%)HP:0010818

Hypoplasia of corpus callosum

Occasional (5-29%)HP:0002079

Hyporeflexia

Occasional (5-29%)HP:0001265

Jerking

Occasional (5-29%)HP:0001336

Low birth weight

Occasional (5-29%)HP:0001518

Moderate mental retardation

Occasional (5-29%)HP:0002342

Pes cavus

Occasional (5-29%)HP:0001761

Postnatal microcephaly

Occasional (5-29%)HP:0005484

Salaam convulsion

Occasional (5-29%)HP:0011097

Small nose

Occasional (5-29%)HP:0003196

Small skull present at birth

Occasional (5-29%)HP:0011451

Spasticity and rigidity of muscles

Occasional (5-29%)HP:0001276

Stereotypical hand wringing

Occasional (5-29%)HP:0012171

Truncal hypotonia

Occasional (5-29%)HP:0008936

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

DEE - developmental and epileptic encephalopathy(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 770431001
UMLS CUI: C4749281
Fully Specified Name: Glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A developmental and epileptic encephalopathy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.