Jancar syndrome

disorder

SNOMED 763743003CUI C0796001

Overview

Jancar syndrome 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.

Involuntary muscle stiffness, contraction, or spasm

Very frequent (80-99%)HP:0001257

Mental deficiency

Very frequent (80-99%)HP:0001249

Abnormality of the arm

Frequent (30-79%)HP:0002817

Abnormality of the hips

Frequent (30-79%)HP:0003272

Bilateral single transverse palmar creases

Frequent (30-79%)HP:0007598

Increased reflexes

Frequent (30-79%)HP:0001347

Partial syndactyly

Frequent (30-79%)HP:0006101

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

Spastic paraplegia

Frequent (30-79%)HP:0001258

Related Conditions

Multiple malformation syndrome with limb defect as major feature(parent)

Ectrodactyly(parent)

Autosomal recessive hereditary spastic paraplegia(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 763743003
UMLS CUI: C0796001
Fully Specified Name: Intellectual disability, spasticity, ectrodactyly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.