congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome
congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
myopathy, mitochondrial progressive, with congenital cataract and developmental delay
mitochondrial Complex deficiency, combined
myopathy with cataract and combined respiratory chain deficiency
myopathy with cataract and combined respiratory-chain deficiency
myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay