1
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
2
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
3
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
4
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
5
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
6
|
(HPO:0000430)
|
Underdeveloped nasal alae |
Very frequent [Orphanet]
|
|
|
|
90 / 7739
|
7
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
8
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
9
|
(HPO:0000490)
|
Deeply set eye |
Frequent [Orphanet]
|
|
|
|
131 / 7739
|
10
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
11
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
12
|
(HPO:0001557)
|
Prenatal movement abnormality |
Frequent [Orphanet]
|
|
|
|
16 / 7739
|
13
|
(HPO:0001561)
|
Polyhydramnios |
Occasional [Orphanet]
|
|
|
|
191 / 7739
|
14
|
(HPO:0001562)
|
Oligohydramnios |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
15
|
(HPO:0002047)
|
Malignant hyperthermia |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
16
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
17
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
18
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
19
|
(HPO:0009465)
|
Ulnar deviation of finger |
Very frequent [Orphanet]
|
|
|
|
48 / 7739
|
20
|
(HPO:0010489)
|
Absent palmar crease |
Occasional [Orphanet]
|
|
|
|
5 / 7739
|
21
|
(HPO:0010751)
|
Chin dimple |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
22
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
23
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
24
|
(HPO:0001762)
|
Talipes equinovarus |
Very frequent [Orphanet]
|
|
|
|
309 / 7739
|
25
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
26
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
27
|
(HPO:0009933)
|
Narrow naris |
Frequent [Orphanet]
|
|
|
|
16 / 7739
|
28
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
29
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
30
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
31
|
(HPO:0000153)
|
Abnormality of the mouth |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
32
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
34
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
35
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
36
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
37
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
38
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
39
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
40
|
(HPO:0000298)
|
Mask-like facies |
|
|
|
|
44 / 7739
|
41
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
42
|
(HPO:0000346)
|
Whistling appearance |
|
|
|
|
4 / 7739
|
43
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
44
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
45
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
46
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
47
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
48
|
(HPO:0001193)
|
Ulnar deviation of the hand or of fingers of the hand |
|
|
|
|
17 / 7739
|
49
|
(HPO:0001249)
|
Intellectual disability |
31% [HPO:probinson]
|
|
|
|
1089 / 7739
|
50
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
51
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
52
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
53
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
54
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
55
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
56
|
(HPO:0001623)
|
Breech presentation |
|
|
|
|
16 / 7739
|
57
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
58
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
59
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
60
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
61
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
62
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
63
|
(HPO:0003044)
|
Shoulder flexion contracture |
|
|
|
|
5 / 7739
|
64
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
65
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
66
|
(HPO:0003298)
|
Spina bifida occulta |
|
|
|
|
67 / 7739
|
67
|
(HPO:0005830)
|
Flexion contracture of toe |
|
|
|
|
9 / 7739
|
68
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
69
|
(HPO:0006958)
|
Abnormal auditory evoked potentials |
|
|
|
|
12 / 7739
|
70
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
71
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
72
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
73
|
(HPO:0011824)
|
Chin with H-shaped crease |
|
|
|
|
1 / 7739
|
74
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
75
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|