2
|
Pelizaeus–Merzbacher disease (PMD)
|
PLP1
|
XL
|
7
|
12
|
10
|
15
|
7
|
7
|
|
Periventricular nodular heterotopia 1 (PVNH1)
|
FLNA
|
XL
|
1
|
3
|
3
|
5
|
2
|
1
|
|
Peroxisome biogenesis disorder 1A (Zellweger) (PBD1A)
|
PEX1
|
AR
|
3
|
3
|
3
|
6
|
3
|
3
|
|
Peroxisome biogenesis disorder 2A (Zellweger) (PBD2A)
|
PEX5
|
AR
|
1
|
2
|
2
|
4
|
0
|
0
|
|
Peroxisome biogenesis disorder 3A (Zellweger) (PBD3A)
|
PEX12
|
AR
|
1
|
3
|
3
|
4
|
2
|
1
|
|
Peroxisome biogenesis disorder 5A (Zellweger) (PBD5A)
|
PEX2
|
AR
|
1
|
4
|
3
|
5
|
2
|
2
|
|
Peutz–Jeghers syndrome (PJS)
|
STK11
|
AD
|
4
|
9
|
7
|
9
|
6
|
4
|
|
Pfeiffer syndrome
|
FGFR1
|
AD
|
2
|
2
|
2
|
4
|
2
|
2
|
|
Phenylketonuria (PKU)
|
PAH
|
AR
|
15
|
20
|
14
|
16
|
8
|
7
|
|
Platelet disorder, familial, with associated myeloid malignancy (FPDMM)
|
RUNX1
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Pleuropulmonary blastoma (PPB)
|
DICER1
|
AD
|
1
|
1
|
1
|
1
|
1
|
1
|
|
Polycystic kidney disease 1 (PKD1)
|
PKD1
|
AD
|
48
|
84
|
64
|
98
|
37
|
34
|
|
Polycystic kidney disease 2 (PKD2)
|
PKD2
|
AD
|
7
|
10
|
9
|
15
|
3
|
3
|
|
Polycystic kidney disease, autosomal recessive (ARPKD)
|
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
|
|
