syndromic intellectual disability eye disorder megalocornea-intellectual disability syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/3448/megalocornea-intellectual-disability-syndrome https://www.malacards.org/card/neuhauser_syndrome NeuhC$user syndrome megalocornea mental retardation syndrome Orphanet:2479 MESH:C536143 OMIM:249310 SCTID:733522005 megalocornea-intellectual disability syndrome MMR syndrome Megalocornea Intellectual Disability Syndrome UMLS:C0796086 NORD:1424 megalocornea intellectual disability syndrome Neuhäuser syndrome MEDGEN:162904 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. GARD:0003448 megalocornea-mental retardation syndrome MONDO:0009577