|
1
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
2
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
4
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
|
5
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
6
|
(HPO:0001081)
|
Cholelithiasis |
|
|
|
|
36 / 7739
|
|
7
|
(HPO:0001082)
|
Cholecystitis |
|
|
|
|
9 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
Occasional [HPO:probinson]
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
10
|
(HPO:0001895)
|
Normochromic anemia |
|
|
|
|
7 / 7739
|
|
11
|
(HPO:0001897)
|
Normocytic anemia |
|
|
|
|
7 / 7739
|
|
12
|
(HPO:0001930)
|
Nonspherocytic hemolytic anemia |
|
|
|
|
10 / 7739
|
|
13
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
|
14
|
(HPO:0003198)
|
Myopathy |
Occasional [HPO:probinson]
|
|
|
|
151 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
16
|
(OMIM)
|
Congenital nonspherocytic hemolytic anemia |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Normal red cell osmotic fragility |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Aldolase A deficiency |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|