Table 1.

Clinical Description of PKDF10^[Note]

			Vestibular Phenotype		Eye Phenotype
Subjecta	Age(years)	Hearing Phenotype	Age atAmbulation	ENGResults	FundoscopyResults	ERGResults	Other Findings
IV:16	20	Profound hearing loss	6 years	Abnormal	Congenital stationary night blindness	Normal	Retinal pigment epithelial changes; flat feet and prominence of the talus due to lack of arches in the feet; atrophy of the muscles around the Achilles tendon; minor facial dysmorphic features
IV:17	9	Profound hearing loss	14 mo	NA	No abnormality detected	Normal	History of hysteric fits from the age of 1 mo; flat feet and prominence of talus due to lack of arches in the feet; minor facial dysmorphic features; lordotic posture but no muscular weakness
IV:19	10	Profound hearing loss	15 mo	NA	RP	RP	Alternating squint; difficulties in tandem gait
IV:20	16	Profound hearing loss	18 mo	NA	No abnormality detected	Normal	History of hysteric fits from the age of 1 mo; alternating squint
IV:8	13	Profound hearing loss	18 mo	NA	No abnormality detected	Normal	Alternating squint; flat feet and prominence of talus due to lack of arches in the feet
IV:2	18	Profound hearing loss	30 mo	Abnormal	No abnormality detected	NA
IV:23	17	Normal	3 years	NA	No abnormality detected	NA	Weakness in the right leg
IV:22	11	Normal	15 mo	NA	No abnormality detected	NA
IV:18	24	Normal	18 mo	NA	No abnormality detected	NA

Note.— ENG = electronystagmography; ERG = electroretinography; NA = not available. All examinations were performed by local physicians in Pakistan, and the neurological examinations were videotaped. All results were reviewed by the clinicians at the National Institutes of Health who are also coauthors of the present article (A.J.G., R.C.C., and A.G.).

^aAll subjects had normal reflexes and ambulated normally during the examination.