" /> Joubert syndrome 4 - CISMeF





Preferred Label : Joubert syndrome 4;

Symbol : JBTS4;

CISMeF acronym : JBTS4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by deletion in the nephrocystin gene (NPHP1, 607100.0005);

Prefixed ID : #609583;

Details


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03/05/2025


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