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.
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microcephalic osteodysplastic primordial dwarfism
MONDO:0000060
microcephaly and chorioretinopathy
MONDO:0000181
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
MONDO:0007918
developmental and epileptic encephalopathy, 9
MONDO:0010246
developmental and epileptic encephalopathy, 8
MONDO:0010375
developmental and epileptic encephalopathy, 2
MONDO:0010396