U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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.

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...