Metadata | |
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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 |
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Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |