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Congenital vertebral-cardiac-renal anomalies syndrome

MedGen UID:
1814457
Concept ID:
C5680183
Disease or Syndrome
Synonyms: Congenital NAD deficiency disorder; Congenital vertebral, cardiac, renal anomalies syndrome; congenital vertebral-cardiac-renal anomalies syndrome; VCRL; vertebral, cardiac, renal, and limb defects syndrome
SNOMED CT: Congenital NAD deficiency disorder (1260142000); Congenital vertebral, cardiac, renal anomalies syndrome (1260142000)
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).
 
Monarch Initiative: MONDO:0020831
OMIM® Phenotypic series: PS617660
Orphanet: ORPHA521438

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of vertebral segmentation defects associated with cardiac (patent ductus arteriosus, atrial septal defect, hypoplastic left heart) and renal (hypoplastic kidneys, chronic kidney disease) anomalies. Additional reported features include limb defects, short stature, global developmental delay, intellectual disability and sensorineural hearing loss among others. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital vertebral-cardiac-renal anomalies syndrome

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