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Disease Ontology Browser
ReNU syndrome (DOID:0061190)
Alliance: disease page
Synonyms: neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language (NEDHAFA)
Alt IDs: OMIM:620851
Definition: An autosomal dominant intellectual developmental disorder characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, seizures (in most), dysmorphic facial features, and brain anomalies, including ventriculomegaly, thin corpus callosum, and progressive white matter loss that has_material_basis_in heterozygous mutation in the RNU4-2 gene on chromosome 12q24.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
08/05/2025
MGI 6.24 		The Jackson Laboratory