megalocornea-intellectual disability syndrome
MONDO:0009577
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.
Research intelligence
Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
Medications under investigation
Verified disease and drug mappings that co-occur within the same study; not evidence of effectiveness.
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Megalocornea-intellectual disability syndrome
Megalocornea-intellectual disability syndrome, also known as Neuhauser syndrome, is a very rare genetic disorder which is characterized by megalocornea, hypotonia from birth, variable intellectual disabilities, psychomotor delays, developmental delays, and facial dysmorphisms such as round face, frontal bossing, antimongoloid slants of the eyes, epicanthal fold, large, low-set ears, broad nasal bridge, nostril anteversion, and increased length of the upper lip. According to OMIM, only 24 cases have been described in medical literature.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.