Megalocornea-intellectual disability syndrome

Orpha code: 2479OMIM code: 249310

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.

Disease data
Classification

Malformation syndrome

Synonyms
MMR syndrome
Zespół MMR
Zespół Neuhäusera
Neuhäuser syndrome
ORPHA code
2479
OMIM code
249310
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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