FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital myasthenic syndrome 22 ID (Ontology) DOID:0080587 (Human Disease)
Definition A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21.
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 congenital myasthenic syndrome 22       1
 for disease ribbon | congenital myasthenic syndrome 22       1
 model of | congenital myasthenic syndrome 22       1
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autosomal genetic disease
 |__autosomal recessive disease_____
physical disorder                   |
 |__congenital myasthenic syndrome__|
neuromuscular junction disease      |
 |__congenital myasthenic syndrome__|
                                    congenital myasthenic syndrome 22  1 rec.
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Is a autosomal recessive disease
congenital myasthenic syndrome
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MIM:616224