|
1
|
(HPO:0000112)
|
Nephropathy |
|
|
|
|
92 / 7739
|
|
2
|
(HPO:0000121)
|
Nephrocalcinosis |
|
|
|
|
57 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
6
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001339)
|
Lissencephaly |
rare [HPO:skoehler]
|
|
|
|
30 / 7739
|
|
9
|
(HPO:0001385)
|
Hip dysplasia |
|
|
|
|
242 / 7739
|
|
10
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
11
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
12
|
(HPO:0001884)
|
Talipes calcaneovalgus |
|
|
|
|
14 / 7739
|
|
13
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
14
|
(HPO:0001947)
|
Renal tubular acidosis |
|
|
|
|
21 / 7739
|
|
15
|
(HPO:0002611)
|
Cholestatic liver disease |
|
|
|
|
19 / 7739
|
|
16
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
17
|
(HPO:0002908)
|
Conjugated hyperbilirubinemia |
|
|
|
|
21 / 7739
|
|
18
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
19
|
(HPO:0008064)
|
Ichthyosis |
|
|
|
|
108 / 7739
|
|
20
|
(HPO:0009806)
|
Nephrogenic diabetes insipidus |
rare [HPO:skoehler]
|
|
|
|
8 / 7739
|
|
21
|
(HPO:0200084)
|
Giant cell hepatitis |
|
|
|
|
8 / 7739
|
|
22
|
(OMIM)
|
Structural cardiac defects (uncommon) |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
24
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
|
25
|
(OMIM)
|
Persistent foramen ovale |
|
|
|
|
3 / 7739
|
|
26
|
(HPO:0001667)
|
Right ventricular hypertrophy |
|
|
|
|
23 / 7739
|
|
27
|
(OMIM)
|
Bile duct abnormalities (paucity, proliferation) |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Pigmentary deposits |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Portal tract fibrosis |
|
|
|
|
2 / 7739
|
|
30
|
(MedDRA:10016219)
|
Fanconi syndrome |
|
|
|
|
3 / 7739
|
|
31
|
(OMIM)
|
Renal tubular degeneration |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Fractures at birth |
|
|
|
|
3 / 7739
|
|
33
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
34
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
35
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
36
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
37
|
(OMIM)
|
Severe bleeding after biopsies (uncommon) |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Recurrent febrile illnesses |
|
|
|
|
2 / 7739
|
|
39
|
(OMIM)
|
B and T cell defects (reported in 2 sibs) |
|
|
|
|
2 / 7739
|
|
40
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|