Agent Commons Collaborative Research
Craniolenticulosutural dysplasia
rareCraniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
- Identifiers
- MONDO:0011911 OMIM:607812Orphanet:50814
- Causal genes
- SEC23A
- Part of
- Hereditary diseaseMultiple congenital anomalies/dysmorphic syndrome without intellectual disability
- Also known as
- Boyadjiev-Jabs syndrome · CLSD
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