Megalocornea-intellectual disability syndrome

Alternate names

MMR syndrome; Neuhauser syndrome

Definition

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.

NIH genetic and rare disease info

• NIH info on Megalocornea-intellectual disability syndrome

Megalocornea-intellectual disability syndrome is a rare disease.

Resources

Frequently asked questions

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