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Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome

MedGen UID:
1842862
•Concept ID:
C5681201
•
Disease or Syndrome
Synonym: hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018655
Orphanet: ORPHA447893

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome

Recent clinical studies

Etiology

Skew deviation. Strabismological diagnosis and treatment alternatives.
Moguel-Ancheita S, Castellanos-Pérez Bolde CG, Orozco-Gómez LP
Cir Cir 2009 Jul-Aug;77(4):267-73; 249-55. PMID: 19919787

Diagnosis

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.
Piro E, Serra G, Antona V, Giuffrè M, Giorgio E, Sirchia F, Schierz IAM, Brusco A, Corsello G
Ital J Pediatr 2020 Sep 24;46(1):140. doi: 10.1186/s13052-020-00903-7. PMID: 32972427Free PMC Article
Skew deviation. Strabismological diagnosis and treatment alternatives.
Moguel-Ancheita S, Castellanos-Pérez Bolde CG, Orozco-Gómez LP
Cir Cir 2009 Jul-Aug;77(4):267-73; 249-55. PMID: 19919787

Clinical prediction guides

Novel LRPPRC compound heterozygous mutation in a child with early-onset Leigh syndrome French-Canadian type: case report of an Italian patient.
Piro E, Serra G, Antona V, Giuffrè M, Giorgio E, Sirchia F, Schierz IAM, Brusco A, Corsello G
Ital J Pediatr 2020 Sep 24;46(1):140. doi: 10.1186/s13052-020-00903-7. PMID: 32972427Free PMC Article
Skew deviation. Strabismological diagnosis and treatment alternatives.
Moguel-Ancheita S, Castellanos-Pérez Bolde CG, Orozco-Gómez LP
Cir Cir 2009 Jul-Aug;77(4):267-73; 249-55. PMID: 19919787

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