The complete phenotype is uncertain since it is based on only two reported and unrelated individuals. The head circumference one one patient was consistent with macrocephaly accompanied by frontal bossing, shallow orbits, preauricular pits and posteriorly rotated ears. A skeletal survey revealed evidence for osteopetrosis. He had a sensorineural hearing deficit said to be congenital in onset.
The other patient, a 9 month old female, belonged to another nonconsanguineous family, and had similar skeletal and craniofacial features with the addition of micrognathia and hypotonia. Congenital neurosensory hearing loss and general lack of pigmentation were noted.
All four parents have congenital sensorineural hearing loss, blue irides and fair skin with premature graying of hair. Four sibs in the two families have phenotypes similar to that of the parents. Only one child, a female, had no features of the phenotype.