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Disease Ontology Browser
neurodevelopmental disorder with progressive spasticity and brain abnormalities (DOID:0070816)
Alliance: disease page
Synonyms: NEDPSB
Alt IDs: OMIM:621102, UMLS_CUI:C6012700
Definition: An autosomal recessive intellectual developmental disorder characterized by global developmental delay with moderate to severely impaired intellectual development, poor or absent speech, hypotonia, and delayed walking or inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the EEFSEC gene on chromosome 3q21.

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
09/01/2026
MGI 6.24 		The Jackson Laboratory