Term Name: CODAS syndrome
Synonyms: cerebral, ocular, dental, auricular, and skeletal syndrome, cerebro-oculo-dento-auriculo-skeletal syndrome
Definition: A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3.
Ontology: Human Disease [DOID:0111274]   ( DOID:0111274 )

Relationships
is a type of: autosomal recessive disease syndrome