" /> Multiple pterygium syndrome, lethal type - CISMeF





Preferred Label : Multiple pterygium syndrome, lethal type;

Symbol : LMPS;

CISMeF acronym : LMPS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pterygium syndrome, multiple, lethal type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the cholinergic receptor, nicotinic, gamma polypeptide gene (CHRNG, 100730.0002); Caused by mutation in the cholinergic receptor, nicotinic, delta polypeptide gene (CHRND, 100720.0005); Caused by mutation in the cholinergic receptor, nicotinic, alpha polypeptide-1, muscle gene (CHRNA1, 100690.0013);

Prefixed ID : #253290;

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02/05/2025


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