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Möbius syndrome or Moebius syndrome is a rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side. Most people with Möbius syndrome are born with complete facial paralysis and cannot close their eyes or form facial expressions.
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The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
20669 Ensembl ENSG00000168875 ENSMUSG00000053747 UniProt O95416 Q04892 RefSeq (mRNA) NM_004189 NM_011440 RefSeq (protein) NP_004180 NP_035570 Location (UCSC) Chr 3: 137.76 – 137.77 Mb Chr 9: 99.76 – 99.76 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Transcription factor SOX-14 is a protein that in humans is encoded by the SOX14 gene. Function This intronless gene encodes a ...
Hanhart syndrome is classified as a rare disease, with approximately 30 known cases having been reported between 1932 and 1991. Early hypotheses believed that the disorder was caused by genetic conditions, with a more recent hypothesis demonstrating that the disorder may be caused by hemorrhagic lesions during prenatal development.
Medical genetics Craniofacial ... Mobius syndrome - paralysis of the facial muscles; References External links. This page was last edited on 27 July 2024, at 16:25 ...
Kota Burden never expected a typical case of the flu would turn into a medical emergency. When her daughter contracted Influenza A in late January, she initially worked to manage the usual ...
Children with some overgrowth syndromes such as Klippel–Trénaunay syndrome can be readily detectable at birth. [3] In contrast, other overgrowth syndromes such as Proteus syndrome usually present in the postnatal period, characteristically between the second and third year of life. [ 2 ]