Progressive epilepsy with mental retardation

disorder

SNOMED 703526007CUI C1864923

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.

Degeneration of cerebellum

Very frequent (80-99%)HP:0001272

Impaired vision

Very frequent (80-99%)HP:0000505

Inability to walk

Very frequent (80-99%)HP:0002540

Intracellular accumulation of autofluorescent lipopigment storage material

Very frequent (80-99%)HP:0003204

Mental-retardation

Very frequent (80-99%)HP:0001249

Seizures

Very frequent (80-99%)HP:0001250

Vascular granular osmiophilic material deposition

Very frequent (80-99%)HP:0003657

Abnormal vocalization

Frequent (30-79%)HP:0002167

Abnormality of pattern visual evoked potentials

Frequent (30-79%)HP:0030455

Abolished electroretinogram

Frequent (30-79%)HP:0000550

Ataxia

Frequent (30-79%)HP:0001251

Clumsiness

Frequent (30-79%)HP:0002312

Decreased visual acuity, progressive

Frequent (30-79%)HP:0000529

EEG with abnormally slow frequencies

Frequent (30-79%)HP:0011203

EEG with generalized epileptiform discharges

Frequent (30-79%)HP:0011198

Fingerprint profiles ultrastructurally

Frequent (30-79%)HP:0003208

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Intellectual impairment

Frequent (30-79%)HP:0100543

Intracellular curvilinear profiles on ultrastructural analysis

Frequent (30-79%)HP:0003205

Loss of speech

Frequent (30-79%)HP:0002371

Myoclonic epilepsy, progressive

Frequent (30-79%)HP:0002123

Optic disc pallor

Frequent (30-79%)HP:0000543

Progressive degeneration of movement

Frequent (30-79%)HP:0002333

Regression of motor skills

Frequent (30-79%)HP:0033044

Spastic quadriplegia

Frequent (30-79%)HP:0002510

Speech and language difficulties

Frequent (30-79%)HP:0000750

Standing instability

Frequent (30-79%)HP:0003698

Supratentorial atrophy

Frequent (30-79%)HP:0002059

Unsteady walk

Frequent (30-79%)HP:0002317

ASD

Occasional (5-29%)HP:0000729

Related Conditions

Neuronal ceroid lipofuscinosis(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital degeneration of nervous system(parent)

Chronic metabolic disease(parent)

Chronic nervous system disease(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 703526007
UMLS CUI: C1864923
Fully Specified Name: Progressive epilepsy-intellectual disability syndrome Finnish type (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.