Ring finger protein 13-related severe early-onset epileptic encephalopathy

disorder

SNOMED 1222659003CUI C5193065

Overview

Ring finger protein 13-related severe early-onset 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.

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Cortical blindness

Frequent (30-79%)HP:0100704

Decreased projection of midface

Frequent (30-79%)HP:0011800

Decreased size of cranium

Frequent (30-79%)HP:0000252

Delayed CNS myelination

Frequent (30-79%)HP:0002188

EEG with focal epileptiform discharges

Frequent (30-79%)HP:0011185

EEG: generalized slow activity

Frequent (30-79%)HP:0010845

Epilepsy

Frequent (30-79%)HP:0001250

Epileptic encephalopathy

Frequent (30-79%)HP:0200134

Eye movement issue

Frequent (30-79%)HP:0000496

Feeding difficulties

Frequent (30-79%)HP:0011968

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Flexion contractures

Frequent (30-79%)HP:0001371

Gastrostomy tube feeding in infancy

Frequent (30-79%)HP:0011471

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Inguinal hernia

Frequent (30-79%)HP:0000023

Intellectual disability, profound

Frequent (30-79%)HP:0002187

Interictal EEG abnormality

Frequent (30-79%)HP:0025373

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Irritability

Frequent (30-79%)HP:0000737

Narrow forehead

Frequent (30-79%)HP:0000341

Pinched bridge of nose

Frequent (30-79%)HP:0000446

Restlessness

Frequent (30-79%)HP:0000711

Sensorineural deafness

Frequent (30-79%)HP:0000407

Small chin

Frequent (30-79%)HP:0000331

Small nose

Frequent (30-79%)HP:0003196

Spasticity and rigidity of muscles

Frequent (30-79%)HP:0001276

Undergrowth

Frequent (30-79%)HP:0001508

Visual fixation instability

Frequent (30-79%)HP:0025405

Abnormal formation of the hip

Occasional (5-29%)HP:0001385

Related Conditions

Congenital microcephalus(parent)

Developmental delay(parent)

Genetic disease(parent)

Multiple system malformation syndrome(parent)

DEE - developmental and epileptic encephalopathy(parent)

Quick Facts

SNOMED CT: 1222659003
UMLS CUI: C5193065
Fully Specified Name: Ring finger protein 13-related severe early-onset 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.