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Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4.
A total absence of the gene results not in Huntington's disease, but another deadly ailment, Wolf-Hirschhorn syndrome.
Wolf-Hirschhorn syndrome at www.orpha.net (Adobe .
Deletion of LETM1 is thought to be involved in the development of Wolf-Hirschhorn syndrome in humans.
Mutations in this gene, which was once known as homeobox 7, have also been associated with Witkop syndrome, Wolf-Hirschhorn syndrome, and autosomal dominant hypodontia.
It can be associated with Johanson-Blizzard syndrome, Adams-Oliver syndrome, trisomy 13, and Wolf-Hirschhorn syndrome.
The NELF-A subunit is encoded by the gene WHSC2, Wolf-Hirschhorn syndrome candidate 2.
Kurt Hirschhorn (born 1926), is an Viennese born American pediatrician, medical geneticist, and cytogeneticist who identified the chromosomal defects that underlie Wolf-Hirschhorn syndrome.
Wolf-Hirschhorn syndrome is so rare that virtually every doctor who counseled the Brancas could tell them no more than what the Brancas gleaned from a single study they found on the Internet.
Genetic causes of microphthalmia include chromosomal abnormalities (trisomy 13 (Patau syndrome), Triploid Syndrome, and Wolf-Hirschhorn Syndrome) or monogenetic Mendelian disorders.
(It was not until after birth that it would became clear that her baby had Wolf-Hirschhorn syndrome, which commonly includes mental retardation, physical disfigurement, inability to speak, seizures and respiratory and digestive problems.)