|
1
|
(HPO:0000194)
|
Open mouth |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
2
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
|
3
|
(HPO:0000303)
|
Mandibular prognathia |
Frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
6
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
7
|
(HPO:0000463)
|
Anteverted nares |
Frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
8
|
(HPO:0000684)
|
Delayed eruption of teeth |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
9
|
(HPO:0000689)
|
Dental malocclusion |
Occasional [Orphanet]
|
|
|
|
114 / 7739
|
|
10
|
(HPO:0000995)
|
Melanocytic nevus |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
|
11
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
12
|
(HPO:0001597)
|
Abnormality of the nail |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
13
|
(HPO:0002997)
|
Abnormality of the ulna |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
14
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
15
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
16
|
(HPO:0003416)
|
Spinal canal stenosis |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
17
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
18
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
19
|
(HPO:0005616)
|
Accelerated skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
46 / 7739
|
|
20
|
(HPO:0009830)
|
Peripheral neuropathy |
Frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
21
|
(HPO:0009924)
|
Aplasia/Hypoplasia involving the nose |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
22
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
23
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
24
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
25
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
26
|
(HPO:0003027)
|
Mesomelia |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
27
|
(HPO:0000248)
|
Brachycephaly |
Frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
28
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
29
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
30
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
31
|
(HPO:0012815)
|
Hypoplastic female external genitalia |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
|
32
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
|
33
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
34
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
35
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|