|
1
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
4
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
5
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
6
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0000869)
|
Secondary amenorrhea |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
9
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0000112)
|
Nephropathy |
|
|
|
|
92 / 7739
|
|
11
|
(HPO:0003259)
|
Elevated serum creatinine |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0007479)
|
Congenital nonbullous ichthyosiform erythroderma |
|
|
|
|
13 / 7739
|
|
13
|
(HPO:0012213)
|
Decreased glomerular filtration rate |
|
|
|
|
21 / 7739
|
|
14
|
(OMIM)
|
Elevated BUN |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
16
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|