|
1
|
(HPO:0000090)
|
Nephronophthisis |
|
|
|
|
42 / 7739
|
|
2
|
(HPO:0000232)
|
Everted lower lip vermilion |
rare [HPO:skoehler]
|
|
|
|
90 / 7739
|
|
3
|
(HPO:0000256)
|
Macrocephaly |
rare [HPO:skoehler]
|
|
|
|
298 / 7739
|
|
4
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
5
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
6
|
(HPO:0000268)
|
Dolichocephaly |
rare [HPO:skoehler]
|
|
|
|
144 / 7739
|
|
7
|
(HPO:0000347)
|
Micrognathia |
rare [HPO:skoehler]
|
|
|
|
426 / 7739
|
|
8
|
(HPO:0000506)
|
Telecanthus |
rare [HPO:skoehler]
|
|
|
|
156 / 7739
|
|
9
|
(HPO:0000685)
|
Hypoplasia of teeth |
|
|
|
|
12 / 7739
|
|
10
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
|
11
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
12
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
|
13
|
(HPO:0000973)
|
Cutis laxa |
|
|
|
|
43 / 7739
|
|
14
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
15
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
16
|
(HPO:0001394)
|
Cirrhosis |
rare [HPO:skoehler]
|
|
|
|
102 / 7739
|
|
17
|
(HPO:0001799)
|
Short nail |
|
|
|
|
12 / 7739
|
|
18
|
(HPO:0001821)
|
Broad nail |
|
|
|
|
5 / 7739
|
|
19
|
(HPO:0002007)
|
Frontal bossing |
rare [HPO:skoehler]
|
|
|
|
366 / 7739
|
|
20
|
(HPO:0002213)
|
Fine hair |
|
|
|
|
77 / 7739
|
|
21
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
rare [HPO:skoehler]
|
|
|
|
78 / 7739
|
|
22
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
23
|
(HPO:0004969)
|
Peripheral pulmonary artery stenosis |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
|
24
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
25
|
(HPO:0000929)
|
Abnormality of the skull |
|
|
|
|
53 / 7739
|
|
26
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
27
|
(HPO:0009117)
|
Aplasia/Hypoplasia of the maxilla |
|
|
|
|
18 / 7739
|
|
28
|
(MedDRA:10056528)
|
Neonatal cholestasis |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Sagittal suture synostosis |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Rhizomelic limbs |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Shortening or bowing of humeri |
|
|
|
|
1 / 7739
|
|
32
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
|
33
|
(OMIM)
|
Webbing of fingers |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0006136)
|
Bilateral postaxial polydactyly |
|
|
|
|
30 / 7739
|
|
35
|
(OMIM)
|
Sandal gap, bilateral (in some patients) |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Short, broad nails |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Sparse, fine hair |
|
|
|
|
4 / 7739
|
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
39
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
|
40
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
41
|
(HPO:0004442)
|
Sagittal craniosynostosis |
rare [HPO:skoehler]
|
|
|
|
16 / 7739
|