Visualize
Metadata
DOID DOID:0080458
Name early infantile epileptic encephalopathy 35
Definition An early infantile epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13.
https://www.ncbi.nlm.nih.gov/pubmed/26224535
Synonyms

ITPA-related encephalopathy [EXACT]

Xrefs

OMIM:616647

ORDO:457375

Relationships

is_a early infantile epileptic encephalopathy

Add an item to the term tracker