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ENCharge Syndrome (CHARGES)
Alias:
Charge Association
Hall-Hittner Syndrome
Coloboma-Heart Defects-Atresia Choanae-Retardation of Growth and Development-Genitourinary Problems-Ear Abnormalities Syndrome
Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
Charges
Hhs
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Charge Syndrome, also known as charge association, is related to choanal atresia, posterior and coloboma of macula. An important gene associated with Charge Syndrome is CHD7 (Chromodomain Helicase DNA Binding Protein 7), and among its related pathways/superpathways are Nervous system development and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include heart and eye, and related phenotypes are hearing impairment and global developmental delay
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MALACARDS
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