PKHD1
AR
|
16
|
29
|
26
|
42
|
17
|
16
|
|
Polymicrogyria, bilateral frontoparietal (BFPP)
|
ADGRG1
|
AR
|
2
|
2
|
1
|
2
|
1
|
1
|
|
Polymicrogyria, bilateral frontoparietal (BFPP)
|
GPR56
|
AR
|
1
|
1
|
1
|
2
|
0
|
0
|
|
Pontocerebellar hypoplasia, type 1B (PCH1B)
|
EXOSC3
|
AR
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Popliteal pterygium syndrome (PPS)
|
IRF6
|
AD
|
2
|
2
|
1
|
2
|
1
|
1
|
|
Porphyria, congenital erythropoietic
|
UROS
|
AR
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Propionic acidemia
|
PCCA,
|
AR
|
3
|
3
|
3
|
5
|
2
|
2
|
|
|
PCCB
|
|
|
|
|
|
|
|
|
Prothrombin deficiency, congenital;
|
F2 F5
|
AR
|
2
|
3
|
3
|
3
|
2
|
2
|
|
Factor V deficiency
|
|
|
|
|
|
|
|
|
|
Pseudovaginal perineoscrotal hypospadias (PPSH)
|
SRD5A2
|
AR
|
1
|
2
|
2
|
4
|
1
|
1
|
|
Rap guanine nucleotide exchange factor 6 (RAPGEF6)
|
RAPGEF6
|
AD
|
1
|
2
|
3
|
4
|
3
|
1
|
|
Renal cell carcinoma, papillary, 1 (RCCP1)
|
MET
|
AD
|
1
|
1
|
2
|
2
|
1
|
1
|
|
Renal tubular acidosis, distal, autosomal recessive (RTADR)
|
ATP6V0A4
|
AR
|
1
|
1
|
2
|
3
|
2
|
1
|
|
Renal tubular dysgenesis (RTD)
|
ACE
|
AR
|
1
|
4
|
3
|
4
|
2
|
2
|
|
Restrictive dermopathy, lethal
|
ZMPSTE24
|
AR
|
2
|
2
|
2
|
3
|
1
|
1
|
|
Retinal dystrophy, early‐onset, with or without pituitary dysfunction, included
|
OTX2
|
AD
|
1
|
1
|
0
|
0
|
0
|
0
|
|
Retinitis pigmentosa 2 (RP2)
|
RP2
|
XL
|
1
|
1
|
1
|
2
|
1
|
1
|
|
Retinitis pigmentosa 3 (RP3)
|
RPGR
|
XL
|
5
|
6
|
6
|
8
|
4
|
3
|
|
Retinitis pigmentosa 4 (RP4)
|
RHO
|
AD
|
3
|
5
|
2
|
4
|
1
|
0
|
|
Retinoblastoma
|
PKHD1
