mental retardation, anterior maxillary protrusion, and strabismus
mental retardation, anterior maxillary protrusion, and strabismus
An autosomal recessive condition (OMIM:613671) characterised by severe mental retardation, anterior maxillary protrusion with vertical maxillary excess, open bite, prominent crowded teeth and strabismus.Molecular pathology
Caused by defects of SOBP, which encodes a nuclear zinc finger protein involved in cochlear development.