Patient No. | Sex | Age | Chromosome location | Gene locus | Gene/locus MIM number | Hom/ Comp het | Nucleotide/amino acid | Inheritance pattern | Phenotype in OMIM | ESRDa HD/PDb |
---|---|---|---|---|---|---|---|---|---|---|
5 | F | 1y8m | Chr16:53652959 Chr16:53692387 | RPGRIP1L | 610,937 | comp het | c.3354G > A/p.W1118X c.1351-11A > G/− | AR | Joubert Syndrome 7 | (+) |
6 | F | 5y9m | Chr16:53720364 Chr16:53679824 | RPGRIP1L | 610,937 | comp het | c.757C > T/p.G253T c.2396G > A/p.C799T | AR | Joubert Syndrome 7 | (+) |
7 | M | 11y6m | Chr16:53683001 Chr16:53708929 | RPGRIP1L | 610,937 | comp het | c.2179G > A/p.G727S c.882G > T/p.E294D | AR | Joubert Syndrome 3 | (+) |
8 | M | 1y6m | Chr8:68026038 Chr8:68024300 | CSPP1 | 611,654 | comp het | c.1215-1_1220delinsATTTTGTTTAATTTTGTTTG/− c.1214G > A/ p.A405G | AR | Joubert Syndrome 21 | (−) |
10 | F | 7 m | chr4:15552462 chr4:15511824 | CC2D2A | 612,013 | comp het | c.2197G > A/ p.G733A c.501G > T/ p.L167A | AR | Joubert Syndrome 9 | (−) |
12 | M | 2y3m | Chr5:37221504 Chr5:37162670 | C5ORF42 | 614,571 | comp het | c.2668C > T/ p.G890T c.7589-2A > G/− | AR | Joubert Syndrome 17 | (−) |
13 | M | 4y5m | Chr5:37181031 Chr5:37213736 | CPLANE1 | 614,571 | comp het | c.5498C > A/p.S1833X c.2845 T > C/p.Y949H | AR | Joubert Syndrome 17 | (−) |
14 | M | 11 m | Chr4:15552462 Chr4:15511824 | CC2D2A | 612,013 | comp het | c.3866C > T/p.T1289I c.4206G > A/p.W1402X | AR | Joubert Syndrome 9 | (−) |
15 | M | 15y8m | Chr3:93722607 Chr3:93722629 | ARL13B | 608,922 | comp het | c.235C>T/p.R79W c.257A>G/p.Y86C | AR | Joubert Syndrome 8 | (−) |
17 | M | 2y2m | Chr2:110917769 Chr2:110917769 | NPHP1 | 607,100 | hom | c.1186C>T/p.L396P | AR | Joubert syndrome 4 | (+) |