Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0080587 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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