" /> Meckel syndrome, type 2 - CISMeF





Preferred Label : Meckel syndrome, type 2;

Symbol : MKS2;

CISMeF acronym : MKS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Meckel-gruber syndrome, type 2;

Description : Meckel syndrome is a rare autosomal recessive lethal condition characterized by an occipital meningoencephalocele, enlarged kidneys with multicystic dysplasia and fibrotic changes in the portal area of the liver and with ductal proliferation, and postaxial polydactyly. For a more complete phenotypic description and information on genetic heterogeneity, see MKS1 (249000).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the transmembrane protein 216 gene (TMEM216, 613277.0002);

Prefixed ID : #603194;

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03/05/2025


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