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Frontonasal dysplasia-alopecia-genital anomalies syndrome

Disease definition

Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism.

ORPHA:228390

Classification level: Disorder
  • Synonym(s):
    • ALX4-related FNDAG
    • Craniofrontonasal dysplasia with alopecia and hypogonadism
    • Frontonasal dysplasia type 2
    • Frontonasal dysplasia with alopecia and genital abnomality
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • OMIM: 613451
  • UMLS: -
  • MeSH: -
  • GARD: 12641
  • MedDRA: -
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