Lethal neonatal spasticity, epileptic encephalopathy syndrome

disorder

SNOMED 1197587003CUI C3281029

Overview

Lethal neonatal spasticity, epileptic encephalopathy 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.

Bradycardia

Always present (100%)HP:0001662

Focal seizures

Always present (100%)HP:0007359

Hypothermia

Always present (100%)HP:0002045

Joint contracture

Always present (100%)HP:0034392

Mental and motor retardation

Always present (100%)HP:0001263

Muscle rigidity

Always present (100%)HP:0002063

Myoclonic spasms

Always present (100%)HP:0003739

Apnea

Very frequent (80-99%)HP:0002104

Appendicular hypertonia

Frequent (30-79%)HP:0002509

CVI

Frequent (30-79%)HP:0100704

Decreased activity of cytochrome C oxidase in muscle tissue

Frequent (30-79%)HP:0003688

Delayed CNS myelination

Frequent (30-79%)HP:0002188

EEG with burst suppression

Frequent (30-79%)HP:0010851

Feeding difficulties

Frequent (30-79%)HP:0011968

Focal motor status epilepticus

Frequent (30-79%)HP:0032663

Hypertonia

Frequent (30-79%)HP:0001276

Myoclonic epilepsy, progressive

Frequent (30-79%)HP:0002123

Thinning of the corpus callosum

Frequent (30-79%)HP:0033725

Truncal hypotonia

Frequent (30-79%)HP:0008936

Decreased projection of mandible

Occasional (5-29%)HP:0000347

Optic atrophy

Occasional (5-29%)HP:0000648

Autonomic dysregulation

HP:0012332

Clonus

HP:0002169

Decreased size of cranium

HP:0000252

Excess astrocytes in brain

HP:0002171

Extensor plantar responses

HP:0003487

Increased reflexes

HP:0001347

Inguinal hernia

HP:0000023

Microcephaly, progressive

HP:0000253

Multifocal onset seizures

HP:0031165

Related Conditions

Paralytic syndrome(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Disease of skeletal muscle(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

DEE - developmental and epileptic encephalopathy(parent)

Central nervous system dysfunction in newborn(parent)

Quick Facts

SNOMED CT: 1197587003
UMLS CUI: C3281029
Fully Specified Name: Lethal neonatal spasticity, epileptic encephalopathy syndrome (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.