Term Name: | Nance-Horan syndrome |
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Synonyms: | |
Definition: | A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. |
Ontology: | Human Disease [DOID:0060599] ( DOID:0060599 ) |