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Adult familial nephronophthisis-spastic quadriparesia syndrome

MedGen UID:
1385988
•Concept ID:
C4518090
•
Disease or Syndrome
Synonyms: Adult familial nephronophthisis with spastic quadriparesia syndrome; adult familial nephronophthisis-spastic quadriparesia syndrome
SNOMED CT: Adult familial nephronophthisis with spastic quadriparesia syndrome (733650000)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017044
Orphanet: ORPHA2666

Definition

This syndrome, associating familial adult medullary cystic disease with spastic quadriparesis has been described in two cases so far. Renal transplantation was successful in those two patients. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAdult familial nephronophthisis-spastic quadriparesia syndrome

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