Dopa responsive dystonia due to sepiapterin reductase deficiency

disorder

SNOMED 1187545003CUI C0268468

Overview

Dopa responsive dystonia due to sepiapterin reductase deficiency 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.

Cognitive delay

Always present (100%)HP:0001263

Involuntary muscle stiffness, contraction, or spasm

Always present (100%)HP:0001257

Reduced sepiapterin reductase activity in cultured fibroblasts

Always present (100%)HP:6000563

Aggression

Frequent (30-79%)HP:0000718

Appendicular hypertonia

Frequent (30-79%)HP:0002509

Ataxia

Frequent (30-79%)HP:0001251

Behavioral changes

Frequent (30-79%)HP:0000708

Cognitive deficits

Frequent (30-79%)HP:0100543

Decreased facial muscle movement

Frequent (30-79%)HP:0000338

Depressive episode

Frequent (30-79%)HP:0000716

Dull intelligence

Frequent (30-79%)HP:0001249

Dystonic movements

Frequent (30-79%)HP:0001332

Eye drop

Frequent (30-79%)HP:0000508

Frequent falls

Frequent (30-79%)HP:0002359

Hyperhidrosis

Frequent (30-79%)HP:0000975

Increased reflexes

Frequent (30-79%)HP:0001347

Muscle rigidity

Frequent (30-79%)HP:0002063

Muscle weakness

Frequent (30-79%)HP:0001324

Nasal deformity

Frequent (30-79%)HP:0000366

No development of motor milestones

Frequent (30-79%)HP:0001270

Oculogyric crisis

Frequent (30-79%)HP:0010553

Sleepy

Frequent (30-79%)HP:0002329

Slowness of movements

Frequent (30-79%)HP:0002067

Speech difficulties

Frequent (30-79%)HP:0000750

Temperature instability

Frequent (30-79%)HP:0005968

Tremor

Frequent (30-79%)HP:0001337

Trouble sleeping

Frequent (30-79%)HP:0002360

Truncal hypotonia

Frequent (30-79%)HP:0008936

Birth weight less than 10th percentile

Occasional (5-29%)HP:0001518

Occasional (5-29%)HP:0100021

Related Conditions

Diurnal dystonia(parent)

Central nervous system complication(parent)

Quick Facts

SNOMED CT: 1187545003
UMLS CUI: C0268468
Fully Specified Name: Dopa responsive dystonia due to sepiapterin reductase deficiency (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.