Megalocornea-mental Retardation Syndrome
Description
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.
Clinical Features
Top most frequent phenotypes and symptoms related to Megalocornea-mental Retardation Syndrome
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
- Scoliosis
- Hypertelorism
- Ataxia
- Growth delay
Incidence and onset information
— Not enough data available about incidence and published cases.
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Alternate names
Megalocornea-mental Retardation Syndrome Is also known as mmr syndrome, neuhauser syndrome;mmr syndrome; neuhäuser syndrome.
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