Pedigree | Mutations | Amino acid | Age/sex | CNS | Liver | Col | RD | Renal | Other |
MKS3 | |||||||||
UW85-1 | c.245C>G | p.P82R | 26y/M | MTS | − | +R | − | − | Transient ELE (valproate) |
c.755T>C | p.M252T | ||||||||
UW85-2 | c.245C>G | p.P82R | 22y/M | MTS | − | +R | − | − | Ptosis |
c.755T>C | p.M252T | ||||||||
UW85-3 | c.245C>G | p.P82R | 19y/M | MTS | − | +R | − | − | − |
c.755T>C | p.M252T | ||||||||
UW86 | c.579_80delAG | p.T193Tfs14X | 2y/F | MTS | − | − | − | − | − |
c. 244C>T | p.P82S | ||||||||
RPGRIP1L | |||||||||
UW04-4* | c.2413C>T | p.R805X | 16y/M | MTS | − | − | − | EK | AB, ptosis |
c.1975T>C | p.S659P | Bx(7y):NPH | |||||||
Tx(7y) |
See table 1 for key to abbreviations.
All UW subjects had developmental delay/mental retardation, hypotonia and/or ataxia, oculomotor apraxia.
Age refers to age at last contact in years (y), months (m) or weeks gestation (w).
Laterality of manifestations is stated as either; R, right; L, left; or bilateral unless otherwise stated.
Outcome details are italicised and appear in the lower portion of the cell.
↵* Brother with liver disease is listed in table 1.