OPHN1 and Global developmental delay: In a family with a 2 base-pair deletion in exon 8 of OPHN1 leading to a premature stop codon, the affected males showed developmental and cognitive delay with IQ ranging from 46 to 54, strabismus, early-onset generalized tonic-clonic seizures, abnormal behaviour and a characteristic facial phenotype with long face, prominent forehead, infraorbital creases, deep set eyes, upturned philtrum and large ears.