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Moynahan syndrome

MedGen UID:
120535
•Concept ID:
C0265328
•
Disease or Syndrome
Synonyms: Alopecia epilepsy oligophrenia syndrome of Moynahan; Moynahan alopecia syndrome; Moynahan's syndrome
SNOMED CT: Moynahan syndrome (788417006); Alopecia, epilepsy, intellectual disability syndrome Moynahan type (788417006)
 
Monarch Initiative: MONDO:0008755
OMIM®: 203600
Orphanet: ORPHA2574

Definition

A rare genetic epilepsy syndrome with characteristics of congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMoynahan syndrome
Follow this link to review classifications for Moynahan syndrome in Orphanet.

Professional guidelines

PubMed

Multiple basal cell naevus syndrome--successful treatment of basal cell tumours with 5-fluorouracil.
Moynahan EJ
Proc R Soc Med 1973 Jul;66(7):627-8. PMID: 4741390Free PMC Article

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