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 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder