Can any body help me in identification of syndrome.
Two female patients are affected phenotypes are Seizure, one patient have 70% deafness, cant walk, cant speak, mental retardation, low calcium level, possible microcephally.
Intellectual disability is not that severe in Pendred's syndrome and hearing loss starts late. Quite often it is hard to define these syndromes unless one has training as clinical geneticist.
Thank you Ayub Sir for adding for answer but after a lot work with out clinical reports i found that patients have CP, microcephaly and mental retardation and i am sure of my work up to 98%