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X-linked Opitz G/BBB syndrome

Abstract

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NORD is very grateful to Dr. Germana Meroni, PhD, Group leader, Cluster in Biomedicine (CBM), AREA Science Park, Trieste, Italy, for assistance in the preparation of this report.

Synonyms of X-linked Opitz G/BBB syndrome

  • hypertelorism-hypospadius syndrome (obsolete)
  • Opitz BBBG syndrome
  • Opitz-G syndrome
  • telecanthus-hypospadius syndrome (obsolete)
  • XLOS

Disorder Subdivisions

  • No subdivisions found.

General Discussion

X-linked Opitz G/BBB syndrome is a rare genetic disorder characterized by facial anomalies, respiratory and genitourinary abnormalities and other midline defects as well as developmental delay or mental retardation. There is a wide variation in severity of this condition, even among members of the same family. X-linked Opitz G/BBB syndrome is an X-linked genetic condition associated with alterations (mutations) in the MID1 gene.

X-linked Opitz G/BBB syndrome Resources

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