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ENBeaulieu-Boycott-Innes Syndrome (BBIS)
Alias:
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Bbis
Microcephaly, Mental Retardation, and Distinctive Facies, with Cardiac and Genitourinary Malformations
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Beaulieu-Boycott-Innes Syndrome, also known as thoc6-related developmental delay-microcephaly-facial dysmorphism syndrome, is related to thoc6 intellectual disability syndrome and dental caries. An important gene associated with Beaulieu-Boycott-Innes Syndrome is THOC6 (THO Complex Subunit 6). Affiliated tissues include heart and kidney, and related phenotypes are abnormality of the dentition and delayed speech and language development
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