SYNGAP1-related developmental and epileptic encephalopathy

disorder

SNOMED 1222656005CUI C5980196

Overview

SYNGAP1-related developmental and epileptic encephalopathy 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.

Abnormality of pain sensation

Very frequent (80-99%)HP:0010832

Cognitive delay

Very frequent (80-99%)HP:0001263

Generalised-onset seizure

Very frequent (80-99%)HP:0002197

Mental-retardation

Very frequent (80-99%)HP:0001249

Speech and language difficulties

Very frequent (80-99%)HP:0000750

Abnormal eating behaviour

Frequent (30-79%)HP:0100738

Ataxia

Frequent (30-79%)HP:0001251

Autism spectrum disorder

Frequent (30-79%)HP:0000729

Behavioural/Psychiatric abnormality

Frequent (30-79%)HP:0000708

Distortion of face

Frequent (30-79%)HP:0001999

Eating-induced seizure

Frequent (30-79%)HP:0020208

Gait disturbance

Frequent (30-79%)HP:0001288

Incoordination

Frequent (30-79%)HP:0002311

Mental retardation, severe

Frequent (30-79%)HP:0010864

Moderate mental retardation

Frequent (30-79%)HP:0002342

Neurodevelopmental regression

Frequent (30-79%)HP:0002376

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Poor speech

Frequent (30-79%)HP:0002465

Trouble sleeping

Frequent (30-79%)HP:0002360

Abnormal tongue physiology

Occasional (5-29%)HP:0030810

Abnormality of the subarachnoid space

Occasional (5-29%)HP:0012703

Anteverted ears

Occasional (5-29%)HP:0040080

Cutaneous photosensitivity

Occasional (5-29%)HP:0000992

Decreased size of cranium

Occasional (5-29%)HP:0000252

Decreased volume of lip vermillion

Occasional (5-29%)HP:0000233

Enophthalmos

Occasional (5-29%)HP:0000490

Feeding difficulties in infancy

Occasional (5-29%)HP:0008872

High arched palate

Occasional (5-29%)HP:0000218

Hypospadias

Occasional (5-29%)HP:0000047

Inverted triangular face

Occasional (5-29%)HP:0000325

Related Conditions

Autosomal dominant hereditary disorder(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

DEE - developmental and epileptic encephalopathy(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1222656005
UMLS CUI: C5980196
Fully Specified Name: Synaptic Ras GTPase activating protein 1-related developmental and epileptic encephalopathy (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.