congenital myasthenic syndrome 22

Term ID

DOID:0080587

Synonyms

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

References

• OMIM:616224

Ontology

Human Disease   ( DOID:0080587 )