| Metadata | |
|---|---|
| ID | DOID:0070801 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070801 Copy |
| Name | Li-Takada-Miyake syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/39500882/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6012727 exactMatch MIM:621212 |
| Subsets |
DO_rare_slim |
| Synonyms |
LTMS [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |