Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay (MPMCD)

Alias:

Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome

Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss, and Developmental Delay

Myopathy with Cataract and Combined Respiratory Chain Deficiency

Mpmcd

Myopathy, Mitochondrial Progressive, with Congenital Cataract, Hearing Loss and Developmental Delay

Congenital Cataract-Progressive Muscular Hypotonia-Deafness-Developmental Delay Syndrome

Mitochondrial Complex Deficiency, Combined

Combined Mitochondrial Complex Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay, also known as congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome, is related to mitochondrial disease and congenital cataract-progressive muscular hypotonia-hearing loss-developmental de. An important gene associated with Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay is GFER (Growth Factor, Augmenter Of Liver Regeneration). Affiliated tissues include eye and globus pallidus, and related phenotypes are ptosis and hypotonia

Related ID：

MALACARDS：MYP163

OMIM：613076

MESH：D017240