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Date: Tue Jan 28 2025
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microcephaly, seizures, and developmental delay
DOID:0080457
Summary
Associated Genes
Associated Alleles
Associated Models
Disease
microcephaly, seizures, and developmental delay
Definition
A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13.
[1]
[2]
Synonyms
developmental and epileptic encephalopathy 10
early infantile epileptic encephalopathy 10
Cross References
MIM:613402
Parent Terms
autosomal recessive disease
developmental and epileptic encephalopathy
Child Terms
None
Sources of Associations
RGD
MGI
ZFIN
FB
WB
SGD
Associated Genes
Associated Alleles
Associated Models
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