1
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
2
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
Very frequent [Orphanet]
|
|
|
|
36 / 7739
|
3
|
(HPO:0001052)
|
Nevus flammeus |
Occasional [Orphanet]
|
|
|
|
88 / 7739
|
4
|
(HPO:0000303)
|
Mandibular prognathia |
Frequent [Orphanet]
|
|
|
|
179 / 7739
|
5
|
(HPO:0000563)
|
Keratoconus |
|
|
|
|
25 / 7739
|
6
|
(HPO:0000545)
|
Myopia |
Occasional [Orphanet]
|
|
|
|
286 / 7739
|
7
|
(HPO:0000765)
|
Abnormality of the thorax |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
8
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
9
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
10
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
11
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
12
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
13
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
14
|
(HPO:0004331)
|
Decreased skull ossification |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
15
|
(HPO:0100540)
|
Palpebral edema |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
16
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
17
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
18
|
(HPO:0009928)
|
Thick nasal alae |
Very frequent [Orphanet]
|
|
|
|
21 / 7739
|
19
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
20
|
(HPO:0001053)
|
Hypopigmented skin patches |
Occasional [Orphanet]
|
|
|
|
80 / 7739
|
21
|
(HPO:0000232)
|
Everted lower lip vermilion |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
22
|
(HPO:0002516)
|
Increased intracranial pressure |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
23
|
(HPO:0006660)
|
Aplastic clavicles |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
24
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Frequent [Orphanet]
|
|
|
|
77 / 7739
|
25
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
26
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
27
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
28
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
29
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
30
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
31
|
(HPO:0002621)
|
Atherosclerosis |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
32
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
33
|
(HPO:0000787)
|
Nephrolithiasis |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
34
|
(HPO:0000453)
|
Choanal atresia |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
35
|
(HPO:0000308)
|
Microretrognathia |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
36
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
37
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
38
|
(HPO:0001537)
|
Umbilical hernia |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
39
|
(HPO:0000869)
|
Secondary amenorrhea |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
40
|
(HPO:0000974)
|
Hyperextensible skin |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
41
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
42
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
43
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Frequent [Orphanet]
|
|
|
|
141 / 7739
|
44
|
(HPO:0001555)
|
Asymmetry of the thorax |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
45
|
(HPO:0010609)
|
Skin tags |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
46
|
(HPO:0001382)
|
Joint hypermobility |
Very frequent [Orphanet]
|
|
|
|
231 / 7739
|
47
|
(HPO:0100659)
|
Abnormality of the cerebral vasculature |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
48
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
49
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
50
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
51
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
52
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
53
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
54
|
(HPO:0001006)
|
Hypotrichosis |
|
|
|
|
219 / 7739
|
55
|
(HPO:0001043)
|
Prominent scalp veins |
|
|
|
|
3 / 7739
|
56
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
57
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
58
|
(HPO:0003187)
|
Breast hypoplasia |
|
|
|
|
17 / 7739
|
59
|
(HPO:0005576)
|
Tubulointerstitial fibrosis |
|
|
|
|
32 / 7739
|
60
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
61
|
(OMIM)
|
Thick, full lips |
|
|
|
|
1 / 7739
|
62
|
(OMIM)
|
Pseudoanodontia |
|
|
|
|
2 / 7739
|
63
|
(OMIM)
|
Amorphous hyaline substance |
|
|
|
|
1 / 7739
|
64
|
(OMIM)
|
Scalp hair present at birth, lost in early childhood and never regrows |
|
|
|
|
1 / 7739
|
65
|
(OMIM)
|
Severe hypotrichosis |
|
|
|
|
2 / 7739
|
66
|
(OMIM)
|
Widespread interstitial fibrosis (visceral organs) |
|
|
|
|
1 / 7739
|
67
|
(HPO:0000159)
|
Abnormality of the lip |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
68
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
69
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
70
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
71
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
72
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
73
|
(HPO:0004325)
|
Decreased body weight |
Occasional [Orphanet]
|
|
|
|
492 / 7739
|
74
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
75
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
76
|
(HPO:0100692)
|
Increased corneal curvature |
Frequent [Orphanet]
|
|
|
|
13 / 7739
|
77
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|