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.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0005328
eye disorder
is_a
MMR syndrome
exact
Megalocornea Intellectual Disability Syndrome
exact
NeuhC$user syndrome
exact
Neuhäuser syndrome
exact
megalocornea intellectual disability syndrome
related
megalocornea mental retardation syndrome
related
megalocornea-intellectual disability syndrome
exact
megalocornea-mental retardation syndrome
related