undetermined early-onset epileptic encephalopathy
A rare infantile epilepsy syndrome characterized by early onset of seizures of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, intellectual disability, poor or absent speech development, behavioral abnormalities, hypotonia, movement disorders, spasticity, microcephaly, and dysmorphic facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.
MONDO:0019216
inborn disorder of amino acid transport
is_a
MONDO:0020070
neonatal epilepsy syndrome
is_a
MONDO:0020071
infantile epilepsy syndrome
is_a
MONDO:0100545
hereditary neurological disease
is_a
non-specific early-onset epileptic encephalopathy
exact
undetermined EOEE
exact
undetermined early-onset epileptic encephalopathy
exact
SPAC23A1.10 SPBC24C6.03 SPBC12C2.08 SPAC1071.06 SPBP23A10.08 SPBC3B8.04c SPAC23C11.09 SPCC794.09c SPAC323.06c SPAC23D3.09 SPAC767.01c SPAC1A6.10 SPBC839.15c