ELOVL4 (elongation of very long chain fatty acids-like 4) related neuro ichthyosis

disorder

SNOMED 1208936008CUI C3280856

Overview

ELOVL4 (elongation of very long chain fatty acids-like 4) related neuro ichthyosis 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.

Appendicular hypertonia

Always present (100%)HP:0002509

Erythema

Always present (100%)HP:0010783

Ichthyosiform abnormality of the skin

Always present (100%)HP:0008064

IQ less than 20

Always present (100%)HP:0002187

Profound global developmental delay

Always present (100%)HP:0012736

Scaling skin

Always present (100%)HP:0040189

Xerosis

Always present (100%)HP:0000958

Brain degeneration

Frequent (30-79%)HP:0012444

Congenital lamellar ichthyosis

Frequent (30-79%)HP:0007479

Delayed CNS myelination

Frequent (30-79%)HP:0002188

Inguinal hernia

Frequent (30-79%)HP:0000023

Joint contracture

Frequent (30-79%)HP:0034392

Myoclonic epilepsy, progressive

Frequent (30-79%)HP:0002123

Photophobia

Frequent (30-79%)HP:0000613

Red and swollen gums

Frequent (30-79%)HP:0000230

Severe myopia

Frequent (30-79%)HP:0011003

Spastic quadriplegia

Frequent (30-79%)HP:0002510

Abnormal visual evoked responses

Occasional (5-29%)HP:0000649

Aplasia/Hypoplasia involving the central nervous system

Occasional (5-29%)HP:0002977

Decreased size of cranium

Occasional (5-29%)HP:0000252

Reactive airway disease

Occasional (5-29%)HP:0002099

Epidermal hyperkeratosis

HP:0000962

Psychomotor development deficiency

HP:0001263

Seizures

HP:0001250

Very poor growth

HP:0001510

Related Conditions

Inherited metabolic disorder of nervous system(parent)

Spastic tetraplegia(parent)

Global developmental delay(parent)

Disorder of lipid metabolism(parent)

Autosomal recessive ichthyosis(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1208936008
UMLS CUI: C3280856
Fully Specified Name: Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 25

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.