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Metadata
ID DOID:0080587
Name congenital myasthenic syndrome 22
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.
https://www.ncbi.nlm.nih.gov/pubmed/28726805
Xrefs

MIM:616224

Parent Relationships

is_a congenital myasthenic syndrome

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

disease has basis in some Abnormality of prenatal development or birth

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