Dopamine transporter deficiency syndrome

disorder

SNOMED 722763000CUI C2751067

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Delayed gross motor development

Always present (100%)HP:0002194

Increased CSF homovanillic acid concentration

Always present (100%)HP:0034201

Oromandibular dystonia

Always present (100%)HP:0012048

Dystonic movements

Very frequent (80-99%)HP:0001332

Muscle rigidity

Very frequent (80-99%)HP:0002063

Parkinsonian disease

Very frequent (80-99%)HP:0001300

Abnormal circulating carboxylic acid concentration

Frequent (30-79%)HP:0004354

Appendicular hypertonia

Frequent (30-79%)HP:0002509

Choreiform movements

Frequent (30-79%)HP:0002072

Cogwheel rigidity

Frequent (30-79%)HP:0002396

Corticospinal signs

Frequent (30-79%)HP:0007256

Frequent (30-79%)HP:0100021

Decreased facial muscle movement

Frequent (30-79%)HP:0000338

Decreased muscle movement

Frequent (30-79%)HP:0002375

Dyschezia

Frequent (30-79%)HP:0002019

Dyskinesia

Frequent (30-79%)HP:0100660

Feeding difficulties

Frequent (30-79%)HP:0011968

Gastro-esophageal reflux

Frequent (30-79%)HP:0002020

Hyperkinetic movements

Frequent (30-79%)HP:0002487

Irritability

Frequent (30-79%)HP:0000737

Mental and motor retardation

Frequent (30-79%)HP:0001263

Nonverbal

Frequent (30-79%)HP:0001344

Ocular flutter

Frequent (30-79%)HP:0031931

Oculogyric crisis

Frequent (30-79%)HP:0010553

Orofacial dyskinesias

Frequent (30-79%)HP:0002310

Slowness of movements

Frequent (30-79%)HP:0002067

Spasticity and rigidity of muscles

Frequent (30-79%)HP:0001276

Tremor

Frequent (30-79%)HP:0001337

Truncal hypotonia

Frequent (30-79%)HP:0008936

Abnormal pyramidal tract morphology

HP:0002062

Related Conditions

Dystonia(parent)

Parkinsonism(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 722763000
UMLS CUI: C2751067
Fully Specified Name: Infantile dystonia parkinsonism (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.