Familial infantile bilateral striatal necrosis

disorder

SNOMED 1208478005CUI C4087174

Overview

Familial infantile bilateral striatal necrosis 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.

Abnormal vocalization

Frequent (30-79%)HP:0002167

Ataxia

Frequent (30-79%)HP:0001251

Atrophy/Degeneration involving the caudate nucleus

Frequent (30-79%)HP:0007374

Basal ganglia gliosis

Frequent (30-79%)HP:0006999

Choreoathetosis

Frequent (30-79%)HP:0001266

Deglutition disorder

Frequent (30-79%)HP:0002015

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dystonic disease

Frequent (30-79%)HP:0001332

Extensor plantar responses

Frequent (30-79%)HP:0003487

Gait disturbance

Frequent (30-79%)HP:0001288

Horizontal pendular nystagmus

Frequent (30-79%)HP:0007811

Hypotonia, early

Frequent (30-79%)HP:0008947

Inability to coordinate movements when walking

Frequent (30-79%)HP:0002066

Increased reflexes

Frequent (30-79%)HP:0001347

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Mental retardation, mild

Frequent (30-79%)HP:0001256

Neurodevelopmental delay

Frequent (30-79%)HP:0012758

Optic atrophy

Frequent (30-79%)HP:0000648

Psychomotor regression

Frequent (30-79%)HP:0002376

Quadriparesis

Frequent (30-79%)HP:0002273

Spastic tetraparesis

Frequent (30-79%)HP:0001285

Speech and language difficulties

Frequent (30-79%)HP:0000750

Undergrowth

Frequent (30-79%)HP:0001508

Cogwheel rigidity

Occasional (5-29%)HP:0002396

Cystic lesions in the basal ganglia

Occasional (5-29%)HP:0006799

Frequent falls

Occasional (5-29%)HP:0002359

Gastro-esophageal reflux

Occasional (5-29%)HP:0002020

Increase in astrocyte number

Occasional (5-29%)HP:0002446

Involuntary jerking movements

Occasional (5-29%)HP:0001336

Loss of ambulation

Occasional (5-29%)HP:0002505

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Infantile striatonigral degeneration(parent)

Chronic brain syndrome(parent)

Quick Facts

SNOMED CT: 1208478005
UMLS CUI: C4087174
Fully Specified Name: Familial infantile bilateral striatal necrosis (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.