Last update 21 Mar 2024

Neuhauser Syndrome

Basic Info

Synonyms
Megalocornea mental retardation syndrome, Megalocornea-macrocephaly-mental and motor retardation (MMMM) syndrome, Megalocornea-intellectual disability syndrome
+ [22]
Introduction
A rare intellectual disability syndrome with most common characteristics of 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.

Analysis

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