14q22q23 microdeletion syndrome

From BugSigDB

A rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.
  • 14q22-q23 microdeletion syndrome
  • 14q22q23 microdeletion syndrome
  • chromosome 14Q22 deletion syndrome
  • Del(14)(q22q23)
  • Frias syndrome
  • Frias syndrome
  • Growth deficiency, Facial anomalies, and brachydactyly
  • Monosomy 14q22-q23
  • monosomy 14q22-q23
  • Monosomy 14q22q23
  • monosomy 14q22q23