Disease association ontology term - MONDO:0011365 - blepharophimosis - intellectual disability syndrome, SBBYS type
Term summary
- ID
- MONDO:0011365
- Name
- blepharophimosis - intellectual disability syndrome, SBBYS type
- Ontology or CV name
- Disease association
- Definition
- Blepharophimosis-intellectual disability syndrome, SBBYS type is characterized by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.
