PMPCB (peptidase mitochondrial processing subunit beta) deficiency

disorder

SNOMED 1279891002CUI C4693741

Overview

PMPCB (peptidase mitochondrial processing subunit beta) 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.

Inability to walk

Always present (100%)HP:0002540

Mental and motor retardation

Always present (100%)HP:0001263

Neurodevelopmental regression

Always present (100%)HP:0002376

No speech development

Always present (100%)HP:0001344

Epilepsy

Very frequent (80-99%)HP:0001250

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Degeneration of cerebellum

Frequent (30-79%)HP:0001272

Dystonic movements

Frequent (30-79%)HP:0001332

Epileptic encephalopathy

Frequent (30-79%)HP:0200134

Higher than normal levels of lactate in blood

Frequent (30-79%)HP:0002151

Postnatal failure to thrive

Frequent (30-79%)HP:0001508

Postnatal microcephaly

Frequent (30-79%)HP:0005484

Visual loss

Frequent (30-79%)HP:0000572

Abnormal finger-nose-finger test

Occasional (5-29%)HP:0001310

Ataxia

Occasional (5-29%)HP:0001251

Brainstem atrophy

Occasional (5-29%)HP:0007366

Optic atrophy

Occasional (5-29%)HP:0000648

Hypoacusis

Very rare (1-4%)HP:0000365

Delay in head control

HP:0002421

Feeding difficulties

HP:0011968

Involuntary muscle stiffness, contraction, or spasm

HP:0001257

Leukoencephalopathy

HP:0002352

Mental-retardation

HP:0001249

Related Conditions

Hereditary degenerative disease of central nervous system(parent)

Inherited metabolic disorder of nervous system(parent)

Chronic metabolic disease(parent)

Developmental hereditary disorder(parent)

Developmental regression(parent)

Multiple mitochondrial dysfunctions syndrome(parent)

Chronic brain syndrome(parent)

Degenerative brain disorder(parent)

Quick Facts

SNOMED CT: 1279891002
UMLS CUI: C4693741
Fully Specified Name: Multiple mitochondrial dysfunctions syndrome type 6 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.