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Bowen-Conradi syndrome
rareBowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.
- Identifiers
- MONDO:0008879 OMIM:211180Orphanet:1270
- Causal genes
- EMG1
- Part of
- Autosomal recessive diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- Bowen Hutterite Syndrome · Bowen Hutterite syndrome (formerly) · Bowen Hutterite syndrome, formerly · Bowen syndrome, Hutterite type · Bowen-Conradi Hutterite syndrome
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