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microcephaly-microcornea syndrome, Seemanova type
Disease Summary
Associated Targets ()
Mondo Description Microcephaly-microcornea syndrome, Seemanova type is characterised by microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. It has been described in two patients (a male and his sister's son). Both patients also presented with facial dysmorphism, including upslanting palpebral fissures, epicanthal folds, highly arched palate, microstomia, and retrognathia. This syndrome is transmitted as an X-linked trait.
Mondo Term and Equivalent IDs
MONDO:0016760: microcephaly-microcornea syndrome, Seemanova type
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0003627
MESH:C537539
Orphanet:2528
SCTID:715464002
MONDO:0016760
High level summary of knowledge for a disease, including descriptions and datasource references.