Megalocornea-intellectual disability syndrome

Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.

Also known as: MMR syndrome, Megalocornea Intellectual Disability Syndrome, NeuhC$user syndrome, Neuhäuser syndrome, megalocornea-intellectual disability syndrome, Neuhauser syndrome, megalocornea intellectual disability syndrome, megalocornea mental retardation syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Megalocornea-intellectual disability syndrome itself.