Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.
Comprehensive, easy-to-understand information about this condition
Checking for content...
polymicrogyria
MONDO:0000087
Neu-Laxova syndrome
MONDO:0000179
congenital myasthenic syndrome with tubular aggregates
MONDO:0000182
prenatal-onset spinal muscular atrophy with congenital bone fractures
MONDO:0000209
inclusion body myopathy with Paget disease of bone and frontotemporal dementia
MONDO:0000507
syndromic intellectual disability
MONDO:0000508