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19q13.11 microdeletion syndrome

Disease definition

The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.

ORPHA:217346

Classification level: Disorder
  • Synonym(s):
    • Del(19)(q13.11)
    • Monosomy 19q13.11
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 613026
  • UMLS: C2751651
  • MeSH: -
  • GARD: 10592
  • MedDRA: -
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