Progressive myoclonic epilepsy due to KCTD7 deficiency

disorder

SNOMED 783064000CUI C2673257

Overview

Progressive myoclonic epilepsy due to KCTD7 deficiency 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.

Instability or lack of coordination of central trunk muscles

Always present (100%)HP:0002078

No speech development

Always present (100%)HP:0001344

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Focal EEG discharges with secondary generalization

Frequent (30-79%)HP:0011188

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Jerking

Frequent (30-79%)HP:0001336

Localized myoclonic seizure

Frequent (30-79%)HP:0011166

Myoclonic status epilepticus

Frequent (30-79%)HP:0032667

Poor school performance

Frequent (30-79%)HP:0001249

Progressive psychomotor deterioration

Frequent (30-79%)HP:0007272

Progressive truncal ataxia

Frequent (30-79%)HP:0007221

Psychomotor regression, progressive

Frequent (30-79%)HP:0002376

Secondary generalized tonic clonic seizures

Frequent (30-79%)HP:0007334

Abnormality of vision

Occasional (5-29%)HP:0000504

Chin myoclonus

Occasional (5-29%)HP:0012462

Decreased size of cranium

Occasional (5-29%)HP:0000252

Degeneration of cerebellum

Occasional (5-29%)HP:0001272

Degeneration of cerebrum

Occasional (5-29%)HP:0002059

EEG with focal epileptiform discharges

Occasional (5-29%)HP:0011185

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

Occasional (5-29%)HP:0002373

Generalized tonic-clonic seizure (without specification of onset)

Occasional (5-29%)HP:0002069

Hypoplastic or absent corpus callosum

Occasional (5-29%)HP:0007370

Myoclonus of limbs

Occasional (5-29%)HP:0045084

Optic atrophy

Occasional (5-29%)HP:0000648

Photomyoclonic seizure

Occasional (5-29%)HP:0001327

Progressive cerebellar ataxia

Occasional (5-29%)HP:0002073

Progressive dementia

Occasional (5-29%)HP:0000726

Visual loss

Occasional (5-29%)HP:0000572

Fingerprint profiles ultrastructurally

HP:0003208

Myoclonic epilepsy, progressive

HP:0002123

Related Conditions

Infantile neuronal ceroid lipofuscinosis(parent)

Chronic brain syndrome(parent)

Cerebral degeneration(parent)

Recessive hereditary disorder (autosomal)(parent)

Progressive myoclonic epilepsy(parent)

Chronic metabolic disease(parent)

Hereditary degenerative disease of central nervous system(parent)

Quick Facts

SNOMED CT: 783064000
UMLS CUI: C2673257
Fully Specified Name: Progressive myoclonic epilepsy type 3 (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.