| umls-concept:C0410203 | skos:definition | JABL: An X-linked form of myotubular myopathy. Male patients are born as floppy infants with abnormalities of the extraocular, neck, and facial muscles and respiratory problems. Large heads with or without hydrocephalus, narrow elongated face, muscle hypotonia, and slender fingers are the principal manifestations. | lld:umls |
