developmental and epileptic encephalopathy, 16
A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has material basis in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.
MONDO:0017385
malignant migrating partial seizures of infancy
is_a
MONDO:0100455
neonatal-onset developmental and epileptic encephalopathy
is_a
DEE16
exact
EIEE16
exact
developmental and epileptic encephalopathy 16
exact
epileptic encephalopathy, early infantile, 16
exact
epileptic encephalopathy, early infantile, type 16
exact