OBO ID: DOID:0080587
Term Name: congenital myasthenic syndrome 22 Search Ontology:
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)
OTHER congenital myasthenic syndrome 22 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PREPL Myasthenic syndrome, congenital, 22 616224
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None