Folinic acid responsive seizures

disorder

SNOMED 717276003CUI C4273952

Overview

Folinic acid responsive seizures 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.

Ataxia

Very frequent (80-99%)HP:0001251

Decreased CSF 5-methyltetrahydrofolate concentration

Very frequent (80-99%)HP:0012446

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Seizures

Very frequent (80-99%)HP:0001250

Autism spectrum disorder

Frequent (30-79%)HP:0000729

Behavioral changes

Frequent (30-79%)HP:0000708

Belly bloating

Frequent (30-79%)HP:0003270

Cerebral hypomyelination

Frequent (30-79%)HP:0006808

Degeneration of cerebellum

Frequent (30-79%)HP:0001272

Delayed myelination

Frequent (30-79%)HP:0012448

EEG: generalized slow activity

Frequent (30-79%)HP:0010845

Elevated CSF neopterin level

Frequent (30-79%)HP:0040204

Encephalopathy

Frequent (30-79%)HP:0001298

Functional motor deficit

Frequent (30-79%)HP:0004302

Laboured breathing

Frequent (30-79%)HP:0002098

Multifocal EEG abnormality

Frequent (30-79%)HP:0010841

Abnormality of movement

Occasional (5-29%)HP:0100022

Apnea

Occasional (5-29%)HP:0002104

Choreatic disease

Occasional (5-29%)HP:0002072

Clonic seizure

Occasional (5-29%)HP:0020221

Drop attacks

Occasional (5-29%)HP:0010819

Dystonic disease

Occasional (5-29%)HP:0001332

Frontotemporal cerebral atrophy

Occasional (5-29%)HP:0006892

Gait disturbance

Occasional (5-29%)HP:0001288

Generalized myoclonic seizure

Occasional (5-29%)HP:0002123

Hypsarrhythmia by EEG

Occasional (5-29%)HP:0002521

Increased reflexes

Occasional (5-29%)HP:0001347

Irritable mood

Occasional (5-29%)HP:0000737

Mental deterioration in childhood

Occasional (5-29%)HP:0002376

Near sighted

Occasional (5-29%)HP:0000545

Related Conditions

Neonatal metabolic disorder(parent)

Central nervous system dysfunction in newborn(parent)

Pyridoxine-dependent epilepsy(parent)

Quick Facts

SNOMED CT: 717276003
UMLS CUI: C4273952
Fully Specified Name: Folinic acid responsive 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.