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neurodevelopmental disorder with spasticity, hypoplasia of the corpus callosum, and recurrent infections (DOID:0081465)
Alliance: disease page
Alt IDs: OMIM:621622
Definition: An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, failure to thrive with poor overall growth, delayed walking or inability to walk, and severe to profoundly impaired intellectual development with absent or poor speech, and that has_material_basis_in homozygous mutation in the EIPR1 gene on chromosome 2p25.

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
07/14/2026
MGI 6.24 		The Jackson Laboratory