Autosomal recessive frontotemporal pachygyria

disorder

SNOMED 773394007CUI C1853215

Overview

Autosomal recessive frontotemporal pachygyria 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.

Cerebral pachygyria

Very frequent (80-99%)HP:0001302

Generalized tonic-clonic seizure (without specification of onset)

Very frequent (80-99%)HP:0002069

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Reduced tendon reflexes

Very frequent (80-99%)HP:0001315

Speech and language difficulties

Very frequent (80-99%)HP:0000750

Urinary incontinence

Very frequent (80-99%)HP:0000020

Epilepsy

Frequent (30-79%)HP:0001250

Esotropia

Frequent (30-79%)HP:0000565

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased intercanthal distance

Frequent (30-79%)HP:0000506

Moderate mental retardation

HP:0002342

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Macrogyria(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 773394007
UMLS CUI: C1853215
Fully Specified Name: Autosomal recessive frontotemporal pachygyria (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.