1
|
(HPO:0000154)
|
Wide mouth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
2
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
4
|
(HPO:0000280)
|
Coarse facial features |
Very frequent [Orphanet]
|
|
|
|
189 / 7739
|
5
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
6
|
(HPO:0000322)
|
Short philtrum |
Occasional [Orphanet]
|
|
|
|
130 / 7739
|
7
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
8
|
(HPO:0000457)
|
Depressed nasal ridge |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
9
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
10
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
11
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
12
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
13
|
(HPO:0000574)
|
Thick eyebrow |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
14
|
(HPO:0000632)
|
Lacrimation abnormality |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
15
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
16
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
17
|
(HPO:0000965)
|
Cutis marmorata |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
18
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
19
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
20
|
(HPO:0001305)
|
Dandy-Walker malformation |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
21
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
22
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
23
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
24
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
25
|
(HPO:0002217)
|
Slow-growing hair |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
26
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
27
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
28
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
29
|
(HPO:0003042)
|
Elbow dislocation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
30
|
(HPO:0003298)
|
Spina bifida occulta |
Occasional [Orphanet]
|
|
|
|
67 / 7739
|
31
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
32
|
(HPO:0005108)
|
Abnormality of the intervertebral disk |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
33
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
34
|
(HPO:0006498)
|
Aplasia/Hypoplasia of the patella |
|
|
|
|
10 / 7739
|
35
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
36
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
37
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
38
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
39
|
(HPO:0100542)
|
Abnormal localization of kidney |
Occasional [Orphanet]
|
|
|
|
64 / 7739
|
40
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
41
|
(HPO:0000445)
|
Wide nose |
Very frequent [Orphanet]
|
|
|
|
190 / 7739
|
42
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
43
|
(HPO:0006660)
|
Aplastic clavicles |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
44
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
45
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
46
|
(HPO:0003468)
|
Abnormality of the vertebrae |
Occasional [Orphanet]
|
|
|
|
77 / 7739
|
47
|
(HPO:0003045)
|
Abnormality of the patella |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
48
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
49
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
50
|
(HPO:0002015)
|
Dysphagia |
Very frequent [Orphanet]
|
|
|
|
301 / 7739
|
51
|
(HPO:0012471)
|
Thick vermilion border |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
52
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
53
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
54
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
55
|
(HPO:0001800)
|
Hypoplastic toenails |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
56
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
57
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
58
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
59
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
60
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
61
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
62
|
(HPO:0000086)
|
Ectopic kidney |
|
|
|
|
29 / 7739
|
63
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
64
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
65
|
(HPO:0000151)
|
Aplasia of the uterus |
|
|
|
|
12 / 7739
|
66
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
67
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
68
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
69
|
(HPO:0000384)
|
Preauricular skin tag |
|
|
|
|
62 / 7739
|
70
|
(HPO:0000453)
|
Choanal atresia |
|
|
|
|
76 / 7739
|
71
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
72
|
(HPO:0000483)
|
Astigmatism |
|
|
|
|
67 / 7739
|
73
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
74
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
75
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
76
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
77
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
78
|
(HPO:0000729)
|
Autistic behavior |
|
|
|
|
27 / 7739
|
79
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
80
|
(HPO:0000879)
|
Short sternum |
|
|
|
|
16 / 7739
|
81
|
(HPO:0000960)
|
Sacral dimple |
|
|
|
|
29 / 7739
|
82
|
(HPO:0001028)
|
Hemangioma |
|
|
|
|
23 / 7739
|
83
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
84
|
(HPO:0001338)
|
Partial agenesis of the corpus callosum |
|
|
|
|
22 / 7739
|
85
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
86
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
87
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
88
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
89
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
90
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
91
|
(HPO:0002219)
|
Facial hypertrichosis |
|
|
|
|
8 / 7739
|
92
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
93
|
(HPO:0002576)
|
Intussusception |
|
|
|
|
10 / 7739
|
94
|
(HPO:0002588)
|
Duodenal ulcer |
|
|
|
|
15 / 7739
|
95
|
(HPO:0002592)
|
Gastric ulcer |
|
|
|
|
39 / 7739
|
96
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
97
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
98
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
99
|
(HPO:0004227)
|
Short distal phalanx of the 5th finger |
|
|
|
|
4 / 7739
|
100
|
(HPO:0006863)
|
Severe expressive language delay |
|
|
|
|
2 / 7739
|
101
|
(HPO:0008398)
|
Hypoplastic fifth fingernail |
|
|
|
|
1 / 7739
|
102
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
103
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
104
|
(HPO:0009747)
|
Lumbosacral hirsutism |
|
|
|
|
2 / 7739
|
105
|
(HPO:0100391)
|
Short distal phalanx of the 5th toe |
|
|
|
|
1 / 7739
|