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Communities

All Communities

  • 12q Chromosome Deletion

    55 members

    12q Chromosome Deletion is a rare disorder characterized by the deletion of chromosome 12q.

  • 13q Deletion Syndrome

    52 members

    Chromosome 13q deletion is a rare genetic disorder in which a piece of genetic material from the long arm (q) of one of the two chromosome 13s is missing. The symptoms and severity of the disord...

  • 14q21.3 Deletion

    3 members

    Community for people dealing with Chromosome 14q21.3 deletion

  • 15q 26.2 Deletion

    212 members

    15q26 deletion is a genetic condition in which a small piece of DNA (genetic material) is missing from one of the 46 chromosomes, specifically from the q (long arm) of chromosome 15.  Depen...

  • 16p13.11 Duplication Syndrome

    23 members

    16p13.11 Duplication Syndrome is a rare disorder characterized by behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.

  • 17-Beta-Hydroxysteroid Dehydrogenase Deficiency

    3 members

    17-Beta-Hydroxysteroid Dehydrogenase Deficiency is a rare sexual development disorder affecting testosterone synthesis.

  • 18P Syndrome

    10 members

    18P Syndrome is a partial deletion of the small arm of the # 18 chromosome. Children with this disorder are generally very small in stature and will have some level of learning disabilities. There ...

  • 1q21.1 Deletion Syndrome

    10 members

    1q21.1 Deletion Syndrome is a rare genetic disorder in which part of chromosome 1q21.1 is not complete.

  • 22q11.2 Deletion Syndrome

    27 members

    22q11.2 Deletion Syndrome is a genetic disorder caused by the deletion of a small segment of the long arm of chromosome 22.

  • 22q13 Deletion Syndrome

    8 members

    22q13 Deletion Syndrome is a rare genetic disorder caused by the deletion of the location q13.3 on chromosome 22.

  • 3p25 Deletion Syndrome

    16 members

    3p25 Deletion Syndrome is a rare chromosomal disorder characterized by mental retardation, growth retardation, hypotonia, microcephaly, ptosis, and micrognathia.

  • 3q23 duplication - COPB2 Gene

    1 members

  • 3q29 deletion syndrome

    1 members

    3q29 deletion syndrome is a rare genetic disorder caused by the loss of a small piece of DNA from the long arm of chromosome 3. The manifestations of the disease are different depending on the p...

  • 48,XXYY Syndrome

    3 members

    48,XXYY syndrome is a rare genetic condition caused by a chromosome aneuploidy.

     

  • 4q33 Deletion

    43 members

    4q33 Deletion a rare disorder caused by a partial deletion of chromosome 4.