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Mikati-Najjar-Sahli syndrome

Disease definition

Mikati-Najjar-Sahli syndrome is characterized by microcephaly, hypergonadotropic hypogonadism, short stature and facial dysmorphism (a narrow forehead, hypertrophy and fusion of the eyebrows, micrognathia and pinnae abnormalities).

ORPHA:2558

Classification level: Disorder
  • Synonym(s):
    • Microcephaly-hypergonadotropic hypogonadism-short stature syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E22.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 3617
  • MedDRA: -
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