Term Name: multiple mitochondrial dysfunctions syndrome 7
Synonyms: MMDS7
Definition: A multiple mitochondrial dysfunctions syndrome 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 that has_material_basis_in homozygous or compound heterozygous mutation in the GCSH gene on chromosome 16q23.
Ontology: Human Disease [DOID:0070733]   ( DOID:0070733 )

Relationships
is a type of: autosomal recessive disease multiple mitochondrial dysfunctions syndrome