" /> Lung agenesis, congenital heart defects, and thumb anomalies syndrome - CISMeF





Preferred Label : Lung agenesis, congenital heart defects, and thumb anomalies syndrome;

Symbol : LACHT;

CISMeF acronym : LACHT;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Mardini-nyhan association;

Description : The Mardini-Nyhan association comprises uni- or bilateral lung agenesis, complex cardiac defects, particularly total anomalous pulmonary venous return (TAPVR), and thumb abnormalities (summary by Hastings et al., 2009).;

Inheritance : Autosomal recessive;

Prefixed ID : %601612;

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28/07/2025


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