THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
Name: |
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
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Description: |
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.
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ORPHAcode: |
363444
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Synonyms: |
BBIS
Beaulieu-Boycott-Innes syndrome
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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