GTR Home > Conditions/Phenotypes > DiGeorge syndrome/velocardiofacial syndrome complex 2

Associated genes

  • Location: 10p14-p13

Clinical features

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  • Strabismus
  • Short stature
  • Short neck
  • Hypoplastic toenails
  • Microcephaly
  • Intrauterine growth retardation
  • Cognitive impairment
  • Low-set, posteriorly rotated ears
  • Macrotia
  • Downslanted palpebral fissures
  • Micrognathia
  • Single transverse palmar crease
  • Cleft palate
  • Cryptorchidism
  • Polycystic ovaries
  • Hypertelorism
  • Hearing abnormality
  • Convex nasal ridge
  • Webbed neck
  • Abnormality of the fingernails
  • Limitation of joint mobility
  • Malformation of the heart and great vessels
  • Abnormality of chromosome segregation
  • Clinodactyly of the 5th finger
  • Ectopic anus
  • Hypoplasia of penis
  • Abnormality of the elbow
  • Non-midline cleft lip
  • Urogenital fistula
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