Symptom Information: Sort according to HPO 

1
 (HPO:0008714) Ureterovesical stenosis Occasional [Orphanet] 10 / 7739
2
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
3
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
4
 (HPO:0000089) Renal hypoplasia 78 / 7739
5
 (HPO:0000003) Multicystic kidney dysplasia 17 / 7739
6
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
7
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
8
 (HPO:0000049) Shawl scrotum Occasional [Orphanet] 31 / 7739
9
 (HPO:0100800) Aplasia/Hypoplasia of the pancreas Occasional [Orphanet] 8 / 7739
10
 (HPO:0004322) Short stature Frequent [Orphanet] rare [HPO:skoehler] 1232 / 7739
11
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
12
 (HPO:0000819) Diabetes mellitus Frequent [Orphanet] 131 / 7739
13
 (HPO:0000239) Large fontanelles Occasional [Orphanet] 135 / 7739
14
 (HPO:0001249) Intellectual disability 1089 / 7739
15
 (HPO:0000028) Cryptorchidism rare [HPO:skoehler] 347 / 7739
16
 (HPO:0008689) Bilateral cryptorchidism 38 / 7739
17
 (HPO:0001562) Oligohydramnios Occasional [Orphanet] 75 / 7739
18
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
19
 (HPO:0000010) Recurrent urinary tract infections 56 / 7739
20
 (HPO:0000122) Unilateral renal agenesis 24 / 7739
21
 (HPO:0000126) Hydronephrosis 119 / 7739
22
 (HPO:0000138) Ovarian cyst rare [HPO:skoehler] 25 / 7739
23
 (HPO:0000151) Aplasia of the uterus 12 / 7739
24
 (HPO:0000177) Abnormality of upper lip rare [HPO:skoehler] 3 / 7739
25
 (HPO:0000218) High palate rare [HPO:skoehler] 356 / 7739
26
 (HPO:0002705) High, narrow palate 308 / 7739
27
 (HPO:0000272) Malar flattening 277 / 7739
28
 (HPO:0000278) Retrognathia 100 / 7739
29
 (HPO:0000286) Epicanthus rare [HPO:skoehler] 371 / 7739
30
 (HPO:0000303) Mandibular prognathia rare [HPO:skoehler] 179 / 7739
31
 (HPO:0000324) Facial asymmetry rare [HPO:skoehler] 57 / 7739
32
 (HPO:0000347) Micrognathia 426 / 7739
33
 (HPO:0000348) High forehead 157 / 7739
34
 (HPO:0000411) Protruding ear rare [HPO:skoehler] 140 / 7739
35
 (HPO:0000494) Downslanted palpebral fissures 328 / 7739
36
 (HPO:0000535) Sparse and thin eyebrow rare [HPO:skoehler] 76 / 7739
37
 (HPO:0000540) Hypermetropia rare [HPO:skoehler] 99 / 7739
38
 (HPO:0008499) High-grade hypermetropia 14 / 7739
39
 (HPO:0000666) Horizontal nystagmus rare [HPO:skoehler] 32 / 7739
40
 (HPO:0000750) Delayed speech and language development 197 / 7739
41
 (HPO:0000998) Hypertrichosis rare [HPO:skoehler] 52 / 7739
42
 (HPO:0001773) Short foot rare [HPO:skoehler] 86 / 7739
43
 (HPO:0001792) Small nail rare [HPO:skoehler] 55 / 7739
44
 (HPO:0001795) Hyperconvex nail rare [HPO:skoehler] 13 / 7739
45
 (HPO:0002007) Frontal bossing 366 / 7739
46
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
47
 (HPO:0002384) Focal seizures with impairment of consciousness or awareness rare [HPO:skoehler] 17 / 7739
48
 (HPO:0002553) Highly arched eyebrow 92 / 7739
49
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
50
 (HPO:0002910) Elevated hepatic transaminases Occasional [Orphanet] rare [HPO:skoehler] 158 / 7739
51
 (HPO:0003250) Aplasia of the vagina 6 / 7739
52
 (HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
53
 (HPO:0004279) Short palm rare [HPO:skoehler] 323 / 7739
54
 (HPO:0005280) Depressed nasal bridge 381 / 7739
55
 (HPO:0005343) Hypoplasia of the bladder 4 / 7739
56
 (HPO:0005999) Ureteral atresia 5 / 7739
57
 (HPO:0008404) Nail dystrophy rare [HPO:skoehler] 89 / 7739
58
 (HPO:0008619) Bilateral sensorineural hearing impairment rare [HPO:skoehler] 23 / 7739
59
 (HPO:0008661) Urethral stenosis rare [HPO:skoehler] 9 / 7739
60
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
61
 (HPO:0009824) Upper limb undergrowth rare [HPO:skoehler] 8 / 7739
62
 (HPO:0010511) Long toe rare [HPO:skoehler] 9 / 7739
63
 (HPO:0011856) Pica rare [HPO:skoehler] 1 / 7739
64
 (HPO:0100753) Schizophrenia rare [HPO:skoehler] 20 / 7739
65
 (HPO:0001166) Arachnodactyly 62 / 7739
66
 (HPO:0100807) Long fingers rare [HPO:skoehler] 23 / 7739
67
 (OMIM) Dolicocephaly (in some patients) 3 / 7739
68
 (OMIM) Facial asymmetry, mild 5 / 7739
69
 (OMIM) Deviation of maxilla, slight (rare) 1 / 7739
70
 (OMIM) Hypertrichosis of upper lip (rare) 1 / 7739
71
 (OMIM) Prominent earlobes (in some patients) 1 / 7739
72
 (HPO:0005338) Sparse lateral eyebrow 21 / 7739
73
 (OMIM) Tubular nose 3 / 7739
74
 (OMIM) Deviation of nasal root (rare) 1 / 7739
75
 (MedDRA:10033603) Pancreatic atrophy 3 / 7739
76
 (OMIM) Genital tract abnormalities 1 / 7739
77
 (OMIM) Unicornuate uterus 3 / 7739
78
 (OMIM) Uterus didelphis 1 / 7739
79
 (OMIM) Ovarian cysts, multiple (rare) 1 / 7739
80
 (HPO:0000107) Renal cyst Very frequent [Orphanet] 126 / 7739
81
 (OMIM) Hyperechogenic kidneys or renal cysts on prenatal ultrasound 1 / 7739
82
 (OMIM) Bilateral ureteropelvic junction stenosis 1 / 7739
83
 (OMIM) Pelvic dilation 2 / 7739
84
 (OMIM) Nonfunctioning kidney 1 / 7739
85
 (OMIM) Normal kidneys 2 / 7739
86
 (OMIM) Thin bladder wall 1 / 7739
87
 (OMIM) Joint mobility increased (in some patients) 1 / 7739
88
 (HPO:0001376) Limitation of joint mobility 27 / 7739
89
 (OMIM) Long slender arms and legs (rare) 1 / 7739
90
 (OMIM) Short arms and legs (rare) 1 / 7739
91
 (OMIM) Long thin hands (rare) 3 / 7739
92
 (OMIM) Long thin feet (rare) 2 / 7739
93
 (OMIM) Nail hypoplasia, mild (rare) 1 / 7739
94
 (OMIM) Mental retardation, mild to moderate 33 / 7739
95
 (OMIM) Autism or autistic features 1 / 7739
96
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
97
 (OMIM) Diabetes, maturity-onset, of the young (MODY) 1 / 7739
98
 (OMIM) Contiguous gene deletion syndrome 23 / 7739
99
 (HPO:0012303) Abnormality of the aortic arch Occasional [Orphanet] 57 / 7739
100
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
101
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
102
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
103
 (HPO:0004325) Decreased body weight Occasional [Orphanet] 492 / 7739
104
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739