|
1
|
(HPO:0000684)
|
Delayed eruption of teeth |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
2
|
(HPO:0000506)
|
Telecanthus |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
3
|
(HPO:0000951)
|
Abnormality of the skin |
Very frequent [Orphanet]
|
|
|
|
147 / 7739
|
|
4
|
(HPO:0000625)
|
Cleft eyelid |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
5
|
(HPO:0000385)
|
Small earlobe |
|
|
|
|
9 / 7739
|
|
6
|
(HPO:0009738)
|
Abnormality of the antihelix |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
7
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Occasional [Orphanet]
|
|
|
|
58 / 7739
|
|
8
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
9
|
(HPO:0000822)
|
Hypertension |
Frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
224 / 7739
|
|
10
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
11
|
(HPO:0009896)
|
Abnormality of the antitragus |
Very frequent [Orphanet]
|
|
|
|
10 / 7739
|
|
12
|
(HPO:0006709)
|
Aplasia/Hypoplasia of the nipples |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
13
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
14
|
(HPO:0004528)
|
Generalized hypotrichosis |
|
|
|
|
18 / 7739
|
|
15
|
(HPO:0100651)
|
Type I diabetes mellitus |
Frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
16
|
(HPO:0009912)
|
Abnormality of the tragus |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
|
17
|
(HPO:0000010)
|
Recurrent urinary tract infections |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
18
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
19
|
(HPO:0000518)
|
Cataract |
Frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
20
|
(HPO:0000069)
|
Abnormality of the ureter |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
21
|
(HPO:0000077)
|
Abnormality of the kidney |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
22
|
(HPO:0000083)
|
Renal insufficiency |
rare [HPO:skoehler]
|
|
|
|
232 / 7739
|
|
23
|
(HPO:0000089)
|
Renal hypoplasia |
rare [HPO:skoehler]
|
|
|
|
78 / 7739
|
|
24
|
(HPO:0000104)
|
Renal agenesis |
rare [HPO:skoehler]
|
|
|
|
68 / 7739
|
|
25
|
(HPO:0010958)
|
Bilateral renal agenesis |
|
|
|
|
16 / 7739
|
|
26
|
(HPO:0000286)
|
Epicanthus |
rare [HPO:skoehler]
|
|
|
|
371 / 7739
|
|
27
|
(HPO:0000303)
|
Mandibular prognathia |
rare [HPO:skoehler]
|
|
|
|
179 / 7739
|
|
28
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
29
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
|
30
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
31
|
(HPO:0000463)
|
Anteverted nares |
rare [HPO:skoehler]
|
|
|
|
305 / 7739
|
|
32
|
(HPO:0000519)
|
Congenital cataract |
rare [HPO:skoehler]
|
|
|
|
73 / 7739
|
|
33
|
(HPO:0000581)
|
Blepharophimosis |
rare [HPO:skoehler]
|
|
|
|
197 / 7739
|
|
34
|
(HPO:0000601)
|
Hypotelorism |
rare [HPO:skoehler]
|
|
|
|
83 / 7739
|
|
35
|
(HPO:0000612)
|
Iris coloboma |
rare [HPO:skoehler]
|
|
|
|
116 / 7739
|
|
36
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
|
37
|
(HPO:0000818)
|
Abnormality of the endocrine system |
|
|
|
|
26 / 7739
|
|
38
|
(HPO:0002000)
|
Short columella |
rare [HPO:skoehler]
|
|
|
|
11 / 7739
|
|
39
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
40
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
|
41
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
42
|
(HPO:0006349)
|
Agenesis of permanent teeth |
|
|
|
|
13 / 7739
|
|
43
|
(HPO:0008070)
|
Sparse hair |
rare [HPO:skoehler]
|
|
|
|
94 / 7739
|
|
44
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
45
|
(HPO:0011251)
|
Underdeveloped antitragus |
|
|
|
|
1 / 7739
|
|
46
|
(HPO:0011272)
|
Underdeveloped tragus |
|
|
|
|
2 / 7739
|
|
47
|
(HPO:0011939)
|
3-4 finger cutaneous syndactyly |
|
|
|
|
2 / 7739
|
|
48
|
(HPO:0012330)
|
Pyelonephritis |
rare [HPO:skoehler]
|
|
|
|
7 / 7739
|
|
49
|
(HPO:0100540)
|
Palpebral edema |
|
|
|
|
31 / 7739
|
|
50
|
(HPO:0100783)
|
Breast aplasia |
|
|
|
|
19 / 7739
|
|
51
|
(OMIM)
|
Congenital denuded areas of the posterior scalp |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Raised, firm, hairless posterior scalp nodules |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Small/rudimentary tragus, antitragus and lobule |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Folded superior edge of helix |
|
|
|
|
1 / 7739
|
|
55
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
56
|
(OMIM)
|
Asymmetric pupils (rare) |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Coloboma of the lower eyelids (rare) |
|
|
|
|
1 / 7739
|
|
58
|
(OMIM)
|
Widely spaced/missing secondary teeth |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Failure of breast enlargement and lactation with pregnancy |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
Pyeloureteral duplication (in some patients) |
|
|
|
|
2 / 7739
|
|
61
|
(MedDRA:10040966)
|
Skull X-ray normal |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Bony defect (in some patients) |
|
|
|
|
1 / 7739
|
|
63
|
(OMIM)
|
Partial third and fourth finger syndactyly (in some patients) |
|
|
|
|
1 / 7739
|
|
64
|
(OMIM)
|
Aplasia cutis congenita of the scalp |
|
|
|
|
2 / 7739
|
|
65
|
(OMIM)
|
Reduced axillary apocrine secretion |
|
|
|
|
1 / 7739
|
|
66
|
(OMIM)
|
Brittle fingernails (in some patients) |
|
|
|
|
1 / 7739
|
|
67
|
(OMIM)
|
Reduced axillary hair and/or pubic hair |
|
|
|
|
1 / 7739
|
|
68
|
(HPO:0002224)
|
Woolly hair |
|
|
|
|
26 / 7739
|
|
69
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
70
|
(HPO:0002289)
|
Alopecia universalis |
|
|
|
|
20 / 7739
|
|
71
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
72
|
(HPO:0000079)
|
Abnormality of the urinary system |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
73
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
74
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|