polyhydramnios, megalencephaly, and symptomatic epilepsy
A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has material basis in homozygous mutation in the STRADA gene on chromosome 17q23.3.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015653
monogenic epilepsy
is_a
MONDO:0100545
hereditary neurological disease
is_a
PMSE
related
PMSE syndrome
exact
polyhydramnios, megalencephaly, and symptomatic epilepsy
exact
polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome
related
pretzel syndrome
related