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1p35.2 microdeletion syndrome

Disease definition

A very rare, chromosomal anomaly characterized by an intrauterine and postanatal growth retardation, short stature, developmental delay, learning difficulties, hearing loss, hypermetropia,and a recognisable facial dysmorphism including prominenet forehead, long, myopathic facies, fine eyebrows, small mouth and micrognathia.

ORPHA:456298

Classification level: Disorder
  • Synonym(s):
    • Del(1)(p35.2)
    • Deletion 1p35.2
    • Monosomy 1p35.2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Neonatal
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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