|
1
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
2
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
3
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
4
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
5
|
(HPO:0000774)
|
Narrow chest |
Frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
6
|
(HPO:0001052)
|
Nevus flammeus |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
7
|
(HPO:0005306)
|
Capillary hemangiomas |
|
|
|
|
8 / 7739
|
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
9
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
10
|
(HPO:0000691)
|
Microdontia |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
11
|
(HPO:0002868)
|
Narrow iliac wings |
|
|
|
|
15 / 7739
|
|
12
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
13
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
14
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
15
|
(HPO:0000154)
|
Wide mouth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
16
|
(HPO:0000239)
|
Large fontanelles |
Very frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
17
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
|
18
|
(HPO:0001476)
|
Delayed closure of the anterior fontanelle |
|
|
|
|
23 / 7739
|
|
19
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
20
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
21
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
22
|
(HPO:0000670)
|
Carious teeth |
Very frequent [Orphanet]
|
|
|
|
145 / 7739
|
|
23
|
(HPO:0002208)
|
Coarse hair |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
24
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
25
|
(HPO:0004331)
|
Decreased skull ossification |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
26
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
27
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
28
|
(HPO:0002299)
|
Brittle hair |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
29
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
30
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
31
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
32
|
(HPO:0000336)
|
Prominent supraorbital ridges |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
33
|
(HPO:0001382)
|
Joint hypermobility |
Occasional [Orphanet]
|
|
|
|
231 / 7739
|
|
34
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
35
|
(HPO:0001763)
|
Pes planus |
Frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
36
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
|
37
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
|
38
|
(HPO:0000193)
|
Bifid uvula |
rare [HPO:skoehler]
|
|
|
|
66 / 7739
|
|
39
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
40
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
41
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
42
|
(HPO:0000565)
|
Esotropia |
rare [HPO:skoehler]
|
|
|
|
58 / 7739
|
|
43
|
(HPO:0000685)
|
Hypoplasia of teeth |
|
|
|
|
12 / 7739
|
|
44
|
(HPO:0000938)
|
Osteopenia |
rare [HPO:skoehler]
|
|
|
|
138 / 7739
|
|
45
|
(HPO:0002020)
|
Gastroesophageal reflux |
rare [HPO:skoehler]
|
|
|
|
101 / 7739
|
|
46
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
47
|
(HPO:0005336)
|
Forehead hyperpigmentation |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0007648)
|
Punctate cataract |
|
|
|
|
2 / 7739
|
|
49
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
50
|
(HPO:0008444)
|
Posterior wedging of vertebral bodies |
|
|
|
|
1 / 7739
|
|
51
|
(HPO:0008808)
|
High iliac wings |
|
|
|
|
2 / 7739
|
|
52
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
53
|
(HPO:0010695)
|
Sutural cataract |
|
|
|
|
3 / 7739
|
|
54
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
55
|
(OMIM)
|
Failure to thrive, postnatal, due to gastroesophageal reflux (in some patients) |
|
|
|
|
1 / 7739
|
|
56
|
(OMIM)
|
Long smooth philtrum |
|
|
|
|
9 / 7739
|
|
57
|
(OMIM)
|
Y-shaped sutural cataract |
|
|
|
|
2 / 7739
|
|
58
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
59
|
(OMIM)
|
Optic atrophy, bilateral (in some patients) |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
Double-ring sign of lens (in some patients) |
|
|
|
|
1 / 7739
|
|
61
|
(OMIM)
|
Ossification defects |
|
|
|
|
3 / 7739
|
|
62
|
(OMIM)
|
Hyperpigmentation |
|
|
|
|
24 / 7739
|
|
63
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
64
|
(HPO:0000288)
|
Abnormality of the philtrum |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
65
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
66
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|