|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
|
3
|
(HPO:0000086)
|
Ectopic kidney |
|
|
|
|
29 / 7739
|
|
4
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
5
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
6
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
7
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
8
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
9
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
10
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
11
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
12
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
13
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
14
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
15
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
16
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
17
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
18
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
19
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
20
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
21
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
|
22
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
23
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
|
24
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
25
|
(HPO:0000965)
|
Cutis marmorata |
|
|
|
|
46 / 7739
|
|
26
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
27
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
28
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
29
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
|
30
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
31
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
32
|
(HPO:0002021)
|
Pyloric stenosis |
|
|
|
|
51 / 7739
|
|
33
|
(HPO:0002090)
|
Pneumonia |
|
|
|
|
59 / 7739
|
|
34
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
|
35
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
|
36
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
37
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
|
38
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
39
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
40
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
41
|
(HPO:0000050)
|
Hypoplastic male external genitalia |
|
|
|
|
10 / 7739
|
|
42
|
(HPO:0009623)
|
Proximal placement of thumb |
|
|
|
|
50 / 7739
|
|
43
|
(HPO:0009829)
|
Phocomelia |
|
|
|
|
20 / 7739
|
|
44
|
(HPO:0100716)
|
Self-injurious behavior |
|
|
|
|
43 / 7739
|
|
45
|
(OMIM)
|
Specific growth curves are available |
|
|
|
|
5 / 7739
|
|
46
|
(OMIM)
|
Conductive hearing loss to due otitis media |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Long curly eyelashes |
|
|
|
|
3 / 7739
|
|
48
|
(HPO:0000202)
|
Oral cleft |
|
|
|
|
120 / 7739
|
|
49
|
(OMIM)
|
Late-erupting teeth |
|
|
|
|
1 / 7739
|
|
50
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
51
|
(HPO:0012210)
|
Abnormal renal morphology |
|
|
|
|
18 / 7739
|
|
52
|
(OMIM)
|
Absent/poor corticomedullary differentiation (some patients) |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Pelvic dilation |
|
|
|
|
2 / 7739
|
|
54
|
(OMIM)
|
Isolated renal cyst (rare) |
|
|
|
|
1 / 7739
|
|
55
|
(HPO:0012211)
|
Abnormal renal physiology |
|
|
|
|
23 / 7739
|
|
56
|
(HPO:0012165)
|
Oligodactyly |
|
|
|
|
18 / 7739
|
|
57
|
(OMIM)
|
Syndactyly of toes 2 and 3 |
|
|
|
|
2 / 7739
|
|
58
|
(OMIM)
|
Low-pitched, growling cry in infancy |
|
|
|
|
1 / 7739
|