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Disease Ontology Browser
Li-Takada-Miyake syndrome (DOID:0070801)
Alliance: disease page
Synonyms: LTMS
Alt IDs: OMIM:621212, UMLS_CUI:C6012727
Definition: An autosomal recessive intellectual developmental disorder characterized by prenatal-onset growth impairment, developmental delay, mild intellectual disability, speech impairment, progressive and disproportionate microcephaly or small head, facial asymmetry, congenital heart anomaly, and brain structure abnormalities that has_material_basis_in homozygous mutation in the GON4L gene on chromosome 1q22.

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