Megalocornea-intellectual disability syndrome
Synonyms: MMR syndrome | Neuhäuser 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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Megalocornea-intellectual disability syndrome?
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