raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:324604

Classic multiminicore myopathy

Synonyms: Classic MmD · Classic multiminicore disease

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
Autosomal recessive
Age of onset
Infancy, Neonatal
Status
active

This disease is described under Multiminicore myopathy

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enClassic multiminicore myopathyClassic MmD · Classic multiminicore disease
frMyopathie à multi-minicores classiqueMmD classique
deMultiminicore-Myopathie, klassischeKlassische MmD · Klassische Multiminicore-Krankheit
esMiopatía multiminicore clásicaEnfermedad multiminicore clásica · MmD clásica
itMiopatia multiminicore classicaMalattia multiminicore classica · MmD classica
nlKlassieke multi-minicore myopathieKlassieke MmD · Klassieke multi-minicore ziekte
ptMiopatia multiminicore clássicaDoença multiminicore clássica · MmD clássica
plKlasyczna miopatia multiminicoreKlasyczna choroba multiminicore · Klasyczna MmD
csKlasická multiminicore myopatieKlasická MmD · Klasická multiminicore nemoc
ukКласична мультимінікорова міопатіяКласичний MmD · Класична багатоядерна хвороба
zh经典型多发性肌病经典型多微小轴空病
trKlasik multiminikor miyopatiKlasik MmD · Klasik multiminicore hastalığı
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM602771NTBTvalidated
ICD-10G71.2NTBTattributedvalidated
ICD-118C72.0YNTBTattributedvalidated
MONDO0017939Evalidated
UMLSC5679883Evalidated
GARD13661Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

4

Genes

3 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
TTNDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:12403ENSG000001556571888402q31.2titin24105469[PMID]
MYH7Disease-causing germline mutation(s) inAssessedHGNC:7577ENSG0000009205416076014q11.2myosin heavy chain 722784669[PMID]
SELENONDisease-causing germline mutation(s) inAssessedHGNC:15999ENSG000001624306062101p36.11selenoprotein N12192640[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

29 annotations · validated 2018-06-11
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0003560Muscular dystrophy
Frequent (79-30%)
HP:0001620Abnormally high-pitched voice
HP:0003327Axial muscle weakness
HP:0002194Delayed gross motor development
HP:0001508Failure to thrive
HP:0003700Generalized amyotrophy
HP:0001290Generalized hypotonia
HP:0000218High palate
HP:0009058Increased muscle lipid content
HP:0004889Intermittent episodes of respiratory insufficiency due to muscle weakness
HP:0005991Limited neck flexion
HP:0002828Multiple joint contractures
HP:0100295Muscle fiber atrophy
HP:0002877Nocturnal hypoventilation
HP:0002421Poor head control
HP:0002091Restrictive ventilatory defectDiagnostic criterion
HP:0002650ScoliosisDiagnostic criterion
HP:0004322Short stature
HP:0003306Spinal rigidity
HP:0030319Weakness of facial musculatureDiagnostic criterion
Occasional (29-5%)
HP:0001635Congestive heart failure
HP:0001385Hip dysplasia
HP:0000303Mandibular prognathia
HP:0000308Microretrognathia
HP:0001634Mitral valve prolapse
HP:0001763Pes planus
HP:0001708Right ventricular failure
HP:0001667Right ventricular hypertrophy
Excluded (0%)
HP:0030091Absent muscle fiber merosin

Run the differential on the 1 obligate / very frequent terms

Annotation source: 15668457[PMID]_11079538[PMID]_10665485[PMID]_7224095[PMID]

7

Sources for this card