Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
Xp22.2 | ?Retinitis pigmentosa 23 | 300424 | XLR | 3 |
Joubert syndrome 10 | 300804 | XLR | 3 | |
Orofaciodigital syndrome I | 311200 | XLD | 3 | |
Simpson-Golabi-Behmel syndrome, type 2 | 300209 | XLR | 3 |
|
|
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
Xp22.2 | Joubert syndrome 10 | 300804 | XLR | 3 | OFD1 | 300170 |
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
11q12.2 | Joubert syndrome 2 | 608091 | AR | 3 | TMEM216 | 613277 |
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
6q23.3 | Joubert syndrome 3 | 608629 | AR | 3 | AHI1 | 608894 |
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
6q23.3 | Joubert syndrome 3 | 608629 | AR | 3 |
|
|
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
3q11.1-q11.2 | Joubert syndrome 8 | 612291 | AR | 3 |
|
|
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
---|---|---|---|---|---|---|
2q13 | Joubert syndrome 4 | 609583 | AR | 3 | NPHP1 | 607100 |
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
12q24.11 | Joubert syndrome 13 | 614173 | AR | 3 |
|
|
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
17q22 | Bardet-Biedl syndrome 13 | 615990 | AR | 3 |
Joubert syndrome 28 | 617121 | AR | 3 | |
Meckel syndrome 1 | 249000 | AR | 3 |
|
|
|
|
|
|
Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
---|---|---|---|---|
8q22.1 | ?RHYNS syndrome | 602152 | AR | 3 |
{Bardet-Biedl syndrome 14, modifier of} | 615991 | AR | 3 | |
COACH syndrome 1 | 216360 | AR | 3 | |
Joubert syndrome 6 | 610688 | AR | 3 | |
Meckel syndrome 3 | 607361 | AR | 3 | |
Nephronophthisis 11 | 613550 | AR | 3 |
|
|
|
|
|
|
|
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