Li-Takada-Miyake syndrome

Term ID

DOID:0070801

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. https://pubmed.ncbi.nlm.nih.gov/39500882/

References

• MIM:621212
• UMLS_CUI:C6012727

Ontology

Human Disease   ( DOID:0070801 )