Brain dopamine-serotonin vesicular transport disease

disorder

SNOMED 717942003CUI C4303546

Overview

Brain dopamine-serotonin vesicular transport disease 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.

Delayed ability to sit

Always present (100%)HP:0025336

Delayed ability to walk

Always present (100%)HP:0031936

Elevated urinary 5-hydroxyindoleacetic acid level

Always present (100%)HP:6000756

Elevated urinary homovanillic acid

Always present (100%)HP:0011977

Incoordination

Always present (100%)HP:0002311

Increased reflexes

Always present (100%)HP:0001347

Mental retardation, mild

Always present (100%)HP:0001256

Muscular hypotonia

Always present (100%)HP:0001252

Stooped posture

Always present (100%)HP:0025403

Temperature instability

Always present (100%)HP:0005968

Abnormality of coordination

Very frequent (80-99%)HP:0011443

Abnormality of the feet

Very frequent (80-99%)HP:0001760

Ataxia

Very frequent (80-99%)HP:0001251

Cognitive deficits

Very frequent (80-99%)HP:0100543

Delay in head control

Very frequent (80-99%)HP:0002421

Difficulty articulating speech

Very frequent (80-99%)HP:0001260

Dysdiadochokinesis

Very frequent (80-99%)HP:0002075

Dystonic disease

Very frequent (80-99%)HP:0001332

Eye drop

Very frequent (80-99%)HP:0000508

Eye movement issue

Very frequent (80-99%)HP:0000496

Frequently cries for no reason

Very frequent (80-99%)HP:0030215

Gait disturbance

Very frequent (80-99%)HP:0001288

Generalised decreased muscle tone

Very frequent (80-99%)HP:0001290

Hypernasal voice

Very frequent (80-99%)HP:0001611

Hypertonia

Very frequent (80-99%)HP:0001276

Hypomimic face

Very frequent (80-99%)HP:0000338

Limb dystonia

Very frequent (80-99%)HP:0002451

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Noisy breathing

Very frequent (80-99%)HP:0010307

Oculogyric crisis

Very frequent (80-99%)HP:0010553

Related Conditions

Dystonia(parent)

Recessive hereditary disorder (autosomal)(parent)

Metabolic disorder of transport(parent)

Hereditary disorder of nervous system(parent)

Quick Facts

SNOMED CT: 717942003
UMLS CUI: C4303546
Fully Specified Name: Brain dopamine-serotonin vesicular transport disease (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.