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Anencephaly 1
rareAnencephaly is a neural tube defect. This malformation is characterized by the total or partial absence of the cranial vault and the covering skin, the brain being missing or reduced to a small mass. Most cases are stillborn, although some infants have been reported to survive for a few hours or even a few days.
- Identifiers
- MONDO:0008791 OMIM:206500Orphanet:1048
- Causal genes
- TRIM36
- Also known as
- absence of a large part of the brain and the skull · isolated anencephaly/exencephaly
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