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ENOrofaciodigital Syndrome Viii (OFD8)
Alias:
Edwards Syndrome
Trisomy 18
Complete Trisomy 18 Syndrome
Ofd8
Trisomy 18 Syndrome
Oral-Facial-Digital Syndrome, Edwards Type
Orofaciodigital Syndrome, Edwards Type
Oral-Facial-Digital Syndrome Type 8
Orofaciodigital Syndrome Type 8
Orofaciodigital Syndrome 8
Chromosome 18 Duplication
Complete Trisomy 18
E3 Trisomy
Oral-Facial-Digital Syndrome with Hypoplastic Epiglottis
Cleft Lip/palate with Abnormal Thumbs and Microcephaly
Oral-Facial-Digital Syndrome, Type Viii
Trisomy 18 Chromosome
Abnormal Autosomes 18
Trisomy E Syndrome
Ofds Viii
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Orofaciodigital Syndrome Viii, also known as edwards syndrome, is related to chromosomal triplication and down syndrome. An important gene associated with Orofaciodigital Syndrome Viii is PAPPA (Pappalysin 1), and among its related pathways/superpathways are Apoptosis and Autophagy and Direct p53 effectors. The drugs Chorionic Gonadotropin and Date Palm have been mentioned in the context of this disorder. Affiliated tissues include tongue and bone, and related phenotypes are hypotonia and global developmental delay
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