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Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

MedGen UID:
321990
•Concept ID:
C1832593
•
Disease or Syndrome
Synonym: Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism
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:0011019
OMIM®: 601217
Orphanet: ORPHA1014

Definition

A rare syndromic intellectual disability characterized by the association of total, congenital alopecia, mild intellectual deficit and hypergonadotropic hypogonadism. Reported electroencephalography findings were normal. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAlopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
Follow this link to review classifications for Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome in Orphanet.

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