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SATB2-associated syndrome due to a chromosomal rearrangement

Disease definition

2q33.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features inlcude high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated.

ORPHA:251028

Classification level: Subtype of disorder
  • Synonym(s):
    • 2q33.1 microdeletion syndrome
    • Del(2)(q33.1)
    • Monosomy 2q33.1
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 612313
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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