multiple mitochondrial dysfunctions syndrome 7
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.
MONDO:0011612
glycine encephalopathy
is_a
MONDO:0017338
fatal multiple mitochondrial dysfunctions syndrome
is_a
GCSH-related glycine encephalopathy
exact
SPBP19A11.01