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neurodevelopmental disorder with hypotonia, epilepsy, and absent speech (DOID:0061252)
Alliance: disease page
Alt IDs: OMIM:621455
Definition: An autosomal recessive intellectual developmental disorder characterized by infantile hypotonia, profoundly impaired motor and cognitive development, absent speech, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the UNC13A gene on chromosome 19p13.

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
03/31/2026
MGI 6.24 		The Jackson Laboratory