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Congenital generalized hypercontractile muscle stiffness syndrome

MedGen UID:
1799212
Concept ID:
C5567789
Disease or Syndrome
Synonym: congenital generalized hypercontractile muscle stiffness syndrome
SNOMED CT: Congenital generalized hypercontractile muscle stiffness syndrome (1174000008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018780
Orphanet: ORPHA476406

Definition

A rare defect of tropomyosin characterised by decreased fetal movements and generalised muscle stiffness at birth. Additional features include joint contractures, short stature, kyphosis, dysmorphic features, temperature dysregulation and variably severe respiratory involvement with hypoxaemia. Muscle biopsy shows mild myopathic features. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital generalized hypercontractile muscle stiffness syndrome

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