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Alopecia - intellectual disability - hypergonadotropic hypogonadism

Orpha number ORPHA1014
Synonym(s) Devriendt-Vandenberghe-Fryns syndrome
Prevalence <1 / 1 000 000
Inheritance Unknown
Age of onset Neonatal
ICD-10 -
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism. It has been described in two brothers born to nonconsanguineous parents of Caucasian origin. EEG findings were normal in both cases. Autosomal recessive transmission was considered likely but an X-linked recessive mode of inheritance could not be excluded.


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