HMNDYT2 - hypermanganesemia with dystonia 2

disorder

SNOMED 768554008CUI C4310765

Overview

HMNDYT2 - hypermanganesemia with dystonia 2 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.

Central hypotonia

Always present (100%)HP:0001252

Chewing difficulties

Always present (100%)HP:0005216

Inability to walk

Always present (100%)HP:0002540

Ankle clonus

Frequent (30-79%)HP:0011448

Atrophic cerebellum

Frequent (30-79%)HP:0001272

Bulbar signs

Frequent (30-79%)HP:0002483

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Decreased facial expressions

Frequent (30-79%)HP:0000338

Degeneration of cerebrum

Frequent (30-79%)HP:0002059

Difficulty speaking

Frequent (30-79%)HP:0002465

Dyskinesia

Frequent (30-79%)HP:0100660

Dystonic movements

Frequent (30-79%)HP:0001332

Extensor plantar responses

Frequent (30-79%)HP:0003487

Gait disturbance

Frequent (30-79%)HP:0001288

Generalised dystonia

Frequent (30-79%)HP:0007325

Hyperintensity of cerebral white matter on MRI

Frequent (30-79%)HP:0030890

Increased blood manganese concentration

Frequent (30-79%)HP:0032097

Increased reflexes

Frequent (30-79%)HP:0001347

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Irritable mood

Frequent (30-79%)HP:0000737

Limb dystonia

Frequent (30-79%)HP:0002451

Limb joint contracture

Frequent (30-79%)HP:0003121

Loss of ambulation

Frequent (30-79%)HP:0002505

Mental-retardation

Frequent (30-79%)HP:0001249

Microcephaly, progressive

Frequent (30-79%)HP:0000253

Multiple joint contractures

Frequent (30-79%)HP:0002828

Oromandibular dystonia

Frequent (30-79%)HP:0012048

Parkinsonian disease

Frequent (30-79%)HP:0001300

Postnatal microcephaly

Frequent (30-79%)HP:0005484

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Related Conditions

Hypermanganesemia with dystonia(parent)

Quick Facts

SNOMED CT: 768554008
UMLS CUI: C4310765
Fully Specified Name: Hypermanganesemia with dystonia 2 (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.