Severe neurodegenerative syndrome due to BSCL2 deficiency

disorder

SNOMED 773555005CUI C4750956

Overview

Severe neurodegenerative syndrome due to BSCL2 deficiency 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.

Progressive encephalopathy

Always present (100%)HP:0002448

Body fails to respond to insulin

Very frequent (80-99%)HP:0000855

Cognitive deficits

Very frequent (80-99%)HP:0100543

Hyperinsulinemia

Very frequent (80-99%)HP:0000842

Lipodystrophy, generalised

Very frequent (80-99%)HP:0009064

Progressive psychomotor deterioration

Very frequent (80-99%)HP:0007272

Reduced intraabdominal adipose tissue

Very frequent (80-99%)HP:0025128

Reduced subcutaneous adipose tissue

Very frequent (80-99%)HP:0003758

Ataxia

Frequent (30-79%)HP:0001251

Brisk deep tendon reflexes

Frequent (30-79%)HP:0001348

Coarse face

Frequent (30-79%)HP:0000280

Corticospinal signs

Frequent (30-79%)HP:0007256

Delayed language development

Frequent (30-79%)HP:0000750

Epilepsy

Frequent (30-79%)HP:0001250

Fatty liver

Frequent (30-79%)HP:0001397

Incoordination

Frequent (30-79%)HP:0002311

Increased reflexes

Frequent (30-79%)HP:0001347

Increased triglycerides

Frequent (30-79%)HP:0002155

Involuntary jerking movements

Frequent (30-79%)HP:0001336

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Tremor

Frequent (30-79%)HP:0001337

Trouble sleeping

Frequent (30-79%)HP:0002360

Acanthosis nigricans

Occasional (5-29%)HP:0000956

Caudate degeneration

Occasional (5-29%)HP:0002340

Cerebral atrophy

Occasional (5-29%)HP:0002059

Cirrhosis

Occasional (5-29%)HP:0001394

Enlarged liver

Occasional (5-29%)HP:0002240

Generalized hirsutism

Occasional (5-29%)HP:0002230

High blood pressure

Occasional (5-29%)HP:0000822

Hyperactive behaviour

Occasional (5-29%)HP:0000752

Related Conditions

Connective tissue hereditary disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of the integument(parent)

Hereditary disorder of nervous system(parent)

Chronic nervous system disease(parent)

Genetic lipodystrophy(parent)

Quick Facts

SNOMED CT: 773555005
UMLS CUI: C4750956
Fully Specified Name: Severe neurodegenerative syndrome with lipodystrophy (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.