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Metadata
ID DOID:0080458
Name developmental and epileptic encephalopathy 35
Definition A developmental and 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
Xrefs

OMIM:616647

ORDO:457375

Synonyms

DEE35 [EXACT]

early infantile epileptic encephalopathy 35 [EXACT]

ITPA-related encephalopathy [EXACT]

Parent Relationships

is_a developmental and epileptic encephalopathy

is_a autosomal recessive disease

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