| Term Name: | Li-Takada-Miyake syndrome |
|---|---|
| Synonyms: | LTMS |
| 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. |
| Ontology: | Human Disease [DOID:0070801] ( DOID:0070801 ) |