" /> Anencephaly 1 - CISMeF





Preferred Label : Anencephaly 1;

Symbol : ANPH1;

CISMeF acronym : ANPH;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : ANPH;

Description : Anencephaly is considered an extreme form of neural tube defect (182940), which has been associated with variation in several genes. The entity described here is believed to show autosomal recessive inheritance.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tripartite motif-containing protein 36 gene (TRIM36, 609317.0001);

Prefixed ID : #206500;

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03/05/2025


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