Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease syndrome

disorder

SNOMED 782886007CUI C5190692

Overview

Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease 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.

Abnormality of the basal ganglia

Very frequent (80-99%)HP:0002134

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Small basal ganglia

Very frequent (80-99%)HP:0012697

Abnormal brainstem MRI signal intensity

Frequent (30-79%)HP:0012747

Ataxia

Frequent (30-79%)HP:0001251

Confusion

Frequent (30-79%)HP:0001289

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dystonic movements

Frequent (30-79%)HP:0001332

Fainting

Frequent (30-79%)HP:0007185

Frequently cries for no reason

Frequent (30-79%)HP:0030215

Increased reflexes

Frequent (30-79%)HP:0001347

Infantile encephalopathy

Frequent (30-79%)HP:0007105

Irritable mood

Frequent (30-79%)HP:0000737

Poor speech

Frequent (30-79%)HP:0002465

Quadriparesis

Frequent (30-79%)HP:0002273

Restlessness

Frequent (30-79%)HP:0000711

Seizures

Frequent (30-79%)HP:0001250

Sleepy

Frequent (30-79%)HP:0002329

Down-slanting palpebral fissure

Occasional (5-29%)HP:0000494

Functional motor deficit

Occasional (5-29%)HP:0004302

Hypotonia, early

Occasional (5-29%)HP:0008947

Infantile spasms

Occasional (5-29%)HP:0012469

Prolonged seizure

Occasional (5-29%)HP:0002133

Respiratory insufficiency

Occasional (5-29%)HP:0002093

Spastic quadriplegia

Occasional (5-29%)HP:0002510

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Metabolic disorder of transport(parent)

Inherited metabolic disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 782886007
UMLS CUI: C5190692
Fully Specified Name: Infantile spasms, psychomotor retardation, progressive brain atrophy, basal ganglia disease 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.