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Distal monosomy 13q

Disease definition

Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.

ORPHA:1590

Classification level: Disorder
  • Synonym(s):
    • 13q32 deletion
    • Deletion 13q32
    • Distal 13q deletion
    • Monosomy 13q32
    • Telomeric deletion13q
  • Prevalence: Unknown
  • Inheritance: -
  • Age of onset: -
  • ICD-10: Q93.5
  • OMIM: 602553
  • UMLS: C1865208  C2930913
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Article for general public

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