THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Synonyms: BBIS | Beaulieu-Boycott-Innes syndrome
A rare autosomal recessive syndromic intellectual disability disorder characterized by global development delay mild microcephaly mild to severe intellectual disability and non-specific facial dysmorphism in association with variable multiple congenital anomalies including congenital heart defects dental anomalies cryptorchidism renal and cerebral malformations. Short stature is frequent.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome?
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