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Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
This syndrome is characterized by the association of total alopecia (present at birth), mild intellectual deficit and hypergonadotropic hypogonadism.
ORPHA:1014Classification level: Disorder
- Devriendt-Vandenberghe-Fryns syndrome
- Prevalence: <1 / 1 000 000
- Inheritance: Unknown
- Age of onset: Neonatal
- ICD-10: -
- OMIM: 601217
- UMLS: C1832593
- MeSH: -
- GARD: -
- MedDRA: -
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.