Multiple mitochondrial dysfunctions syndrome 7
Multiple mitochondrial dysfunctions syndrome 7
Definition
Any multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the GCSH gene. It is characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems.
Also known as GCSH-related glycine encephalopathy — per MONDO