ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis

disorder

SNOMED 789657008CUI C5230619

Overview

ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis 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.

Muscle rigidity

Very frequent (80-99%)HP:0002063

Abnormal retropulsion test

Frequent (30-79%)HP:0002172

Diffuse cerebral atrophy

Frequent (30-79%)HP:0002506

Dystonic movements

Frequent (30-79%)HP:0001332

Extensor plantar responses

Frequent (30-79%)HP:0003487

Intellectual impairment

Frequent (30-79%)HP:0100543

Involuntary jerking movements

Frequent (30-79%)HP:0001336

Parkinsonism with favorable response to dopaminergic medication

Frequent (30-79%)HP:0002548

Slowness of movements

Frequent (30-79%)HP:0002067

Tremor

Frequent (30-79%)HP:0001337

Upgaze palsy

Frequent (30-79%)HP:0025331

Abnormal caudate nucleus morphology

Occasional (5-29%)HP:0002339

Difficulty articulating speech

Occasional (5-29%)HP:0001260

Gait disturbance

Occasional (5-29%)HP:0001288

Muscle weakness

Occasional (5-29%)HP:0001324

Tiredness

Occasional (5-29%)HP:0012378

Depressive episode

Very rare (1-4%)HP:0000716

Postural tremor

Very rare (1-4%)HP:0002174

Related Conditions

Spinocerebellar ataxia(parent)

Neuronal ceroid lipofuscinosis(parent)

Parkinsonism(parent)

Cerebral degeneration in childhood(parent)

Chronic brain syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Chronic metabolic disease(parent)

Acquired ataxia(parent)

Chronic disorder of spinal cord(parent)

Quick Facts

SNOMED CT: 789657008
UMLS CUI: C5230619
Fully Specified Name: ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.