[NTR/gene] CHRNA1 associated fetal hypo-akinesia disorder of prenatal onset

[sng2140]

Preferred gene-related syndrome label

CHRNA1 associated fetal hypo-akinesia disorder of prenatal onset

Synonyms

congenital myasthenic syndrome
lethal multiple pterygium syndrome
myasthenic syndrome, congenital

Parent term (use OLS, or your favorite ontology browser)

multiple pterygium syndrome

Definition
Please write the definition in the format: Any [parent class] in which the cause of the disease is a mutation in the [gene name] gene. For example: Any congenital myopathy in which the cause of the disease is a mutation in the TPM3 gene.

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene

Definition source (Please give PubMed ID, if applicable, in format PMID:#######)

PMD: 36835142

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?

CHRNA1 congenital myasthenic syndrome, slow channel (MONDO: 0011088)
CHRNA1 congenital myasthenic syndrome, fast channel (MONDO: 0012156)

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