DO_rare_slim has material basis in has symptom disease has basis in autosomal recessive disease physical disorder Compton-North congenital myopathy disease_ontology ORDO:210163 DOID:0080101 MIM:612540 2015-11-10T17:27:15Z A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. congenital myopathy 12 congenital myopathy autosomal recessive inheritance Abnormality of prenatal development or birth muscle weakness