Polymicrogyria in association with homozygous/compound heterozygous ATP1A2 variants (autosomal recessive) |
approved
|
*182340 |
|
|
Pontocerebellar Hypoplasia type 1a, type 2a, type 2b, type 2c, type 2d , type 3, type 4, type 6 |
approved
|
607596, 277470, 612389, 612390, 613811, 608027, 225753, 611523 |
|
|
Pontocerebellar Hypoplasia type 1B (PCH1B) |
approved
|
614678 |
|
|
Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal |
approved
|
618810 |
|
|
Popliteal Pterigum Syndrome (PPS) |
approved
|
119500 |
|
|
Porencephaly 1 |
approved
|
175780 |
|
|
Prader Willi Syndrome (PWS) |
approved
|
176270 |
|
Primary Ciliary Dyskinesia Type 1 (CILD1 |
approved
|
244400 |
|
|
Primary Ciliary Dyskinesia Type 10 (CILD10) |
approved
|
612518 |
|
|
Primary Ciliary Dyskinesia Type 11 (CILD11) |
approved
|
612649 |
|
|
Primary Ciliary Dyskinesia Type 12 (CILD12) |
approved
|
612650 |
|
|
Primary Ciliary Dyskinesia Type 13 (CILD13) |
approved
|
613193 |
|
|
Primary Ciliary Dyskinesia Type 14 (CILD14) |
approved
|
613807 |
|
|
Primary Ciliary Dyskinesia Type 15 (CILD15) |
approved
|
613808 |
|
|
Primary Ciliary Dyskinesia Type 15 (CILD15) |
approved
|
613808 |
|
Primary Ciliary Dyskinesia Type 16 (CILD16) |
approved
|
614017 |
|
|
Primary Ciliary Dyskinesia Type 16 (CILD16) |
approved
|
614017 |
|
Primary Ciliary Dyskinesia Type 17 (CILD17) |
approved
|
614679 |
|
|
Primary Ciliary Dyskinesia Type 18 (CILD18) |
approved
|
614874 |
|
|
Primary Ciliary Dyskinesia Type 19 (CILD19) |
approved
|
614935 |
|
|