1
|
(HPO:0000076)
|
Vesicoureteral reflux |
Frequent [Orphanet]
Rare [HPO:probinson]
|
|
|
|
94 / 7739
|
2
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
3
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
4
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
5
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
6
|
(HPO:0000294)
|
Low anterior hairline |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
7
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
8
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
9
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [Orphanet]
|
|
|
|
164 / 7739
|
10
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
11
|
(HPO:0000453)
|
Choanal atresia |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
12
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
13
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
14
|
(HPO:0000482)
|
Microcornea |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
15
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
16
|
(HPO:0000498)
|
Blepharitis |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
17
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
18
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
19
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
20
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
21
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
22
|
(HPO:0000574)
|
Thick eyebrow |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
23
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
24
|
(HPO:0000664)
|
Synophrys |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
25
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
26
|
(HPO:0000717)
|
Autism |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
27
|
(HPO:0000722)
|
Obsessive-compulsive behavior |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
28
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
29
|
(HPO:0000786)
|
Primary amenorrhea |
Occasional [Orphanet]
|
|
|
|
61 / 7739
|
30
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
31
|
(HPO:0000965)
|
Cutis marmorata |
Frequent [Orphanet]
|
|
|
|
46 / 7739
|
32
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
33
|
(HPO:0001180)
|
Hand oligodactyly |
|
|
|
|
17 / 7739
|
34
|
(HPO:0009380)
|
Aplasia of the fingers |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
35
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
36
|
(HPO:0001252)
|
Muscular hypotonia |
Occasional [Orphanet]
|
|
|
|
990 / 7739
|
37
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
38
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
39
|
(HPO:0001557)
|
Prenatal movement abnormality |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
40
|
(HPO:0001608)
|
Abnormality of the voice |
Very frequent [Orphanet]
|
|
|
|
126 / 7739
|
41
|
(HPO:0001622)
|
Premature birth |
Frequent [Orphanet]
|
|
|
|
100 / 7739
|
42
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
43
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
44
|
(HPO:0001770)
|
Toe syndactyly |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
45
|
(HPO:0001956)
|
Truncal obesity |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
46
|
(HPO:0002021)
|
Pyloric stenosis |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
47
|
(HPO:0002119)
|
Ventriculomegaly |
Occasional [Orphanet]
|
|
|
|
253 / 7739
|
48
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
49
|
(HPO:0002162)
|
Low posterior hairline |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
50
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
51
|
(HPO:0002360)
|
Sleep disturbance |
Frequent [Orphanet]
|
|
|
|
113 / 7739
|
52
|
(HPO:0002553)
|
Highly arched eyebrow |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
53
|
(HPO:0002566)
|
Intestinal malrotation |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
54
|
(HPO:0002580)
|
Volvulus |
Occasional [Orphanet]
|
|
|
|
10 / 7739
|
55
|
(HPO:0002714)
|
Downturned corners of mouth |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
56
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
57
|
(HPO:0002974)
|
Radioulnar synostosis |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
58
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
59
|
(HPO:0003042)
|
Elbow dislocation |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
60
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
61
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
62
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
63
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
64
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
65
|
(HPO:0006709)
|
Aplasia/Hypoplasia of the nipples |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
66
|
(HPO:0009623)
|
Proximal placement of thumb |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
67
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
68
|
(HPO:0009830)
|
Peripheral neuropathy |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
69
|
(HPO:0010880)
|
Increased nuchal translucency |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
70
|
(HPO:0000130)
|
Abnormality of the uterus |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
71
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
72
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Occasional [Orphanet]
|
|
|
|
137 / 7739
|
73
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
74
|
(HPO:0000752)
|
Hyperactivity |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
75
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
76
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Occasional [Orphanet]
|
|
|
|
62 / 7739
|
77
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
78
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
79
|
(HPO:0002997)
|
Abnormality of the ulna |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
80
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
81
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
82
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
83
|
(HPO:0200055)
|
Small hand |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
84
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
85
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
86
|
(HPO:0006494)
|
Aplasia/Hypoplasia involving bones of the feet |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
87
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
88
|
(HPO:0012815)
|
Hypoplastic female external genitalia |
Frequent [Orphanet]
|
|
|
|
36 / 7739
|
89
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
90
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
91
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
92
|
(HPO:0400004)
|
Long ear |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
93
|
(HPO:0002577)
|
Abnormality of the stomach |
Very frequent [Orphanet]
|
|
|
|
84 / 7739
|
94
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
95
|
(HPO:0000372)
|
Abnormality of the auditory canal |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
96
|
(HPO:0000107)
|
Renal cyst |
Frequent [Orphanet]
Rare [HPO:probinson]
|
|
|
|
126 / 7739
|
97
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
98
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
99
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
100
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
101
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
102
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
103
|
(HPO:0000050)
|
Hypoplastic male external genitalia |
|
|
|
|
10 / 7739
|
104
|
(HPO:0000059)
|
Hypoplastic labia majora |
|
|
|
|
22 / 7739
|
105
|
(HPO:0000086)
|
Ectopic kidney |
|
|
|
|
29 / 7739
|
106
|
(HPO:0000089)
|
Renal hypoplasia |
Rare [HPO:probinson]
|
|
|
|
78 / 7739
|
107
|
(HPO:0000093)
|
Proteinuria |
Rare [HPO:probinson]
|
|
|
|
169 / 7739
|
108
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
109
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
110
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
111
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
112
|
(HPO:0000483)
|
Astigmatism |
|
|
|
|
67 / 7739
|
113
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
114
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
115
|
(HPO:0000588)
|
Optic nerve coloboma |
|
|
|
|
27 / 7739
|
116
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
117
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
|
|
40 / 7739
|
118
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
|
|
212 / 7739
|
119
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
120
|
(HPO:0000776)
|
Congenital diaphragmatic hernia |
|
|
|
|
36 / 7739
|
121
|
(HPO:0000879)
|
Short sternum |
|
|
|
|
16 / 7739
|
122
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
123
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
124
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
125
|
(HPO:0001551)
|
Abnormality of the umbilicus |
|
|
|
|
4 / 7739
|
126
|
(HPO:0001612)
|
Weak cry |
|
|
|
|
17 / 7739
|
127
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
128
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
129
|
(HPO:0002036)
|
Hiatus hernia |
|
|
|
|
24 / 7739
|
130
|
(HPO:0002090)
|
Pneumonia |
|
|
|
|
59 / 7739
|
131
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
132
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
133
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
134
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
135
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
136
|
(HPO:0003997)
|
Hypoplastic radial head |
|
|
|
|
2 / 7739
|
137
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
138
|
(HPO:0004785)
|
Malrotation of colon |
|
|
|
|
3 / 7739
|
139
|
(HPO:0005217)
|
Duplication of internal organs |
|
|
|
|
3 / 7739
|
140
|
(HPO:0005565)
|
Reduced renal corticomedullary differentiation |
|
|
|
|
5 / 7739
|
141
|
(HPO:0005815)
|
Supernumerary ribs |
|
|
|
|
9 / 7739
|
142
|
(HPO:0007665)
|
Curly eyelashes |
|
|
|
|
6 / 7739
|
143
|
(HPO:0009829)
|
Phocomelia |
|
|
|
|
20 / 7739
|
144
|
(HPO:0100716)
|
Self-injurious behavior |
|
|
|
|
43 / 7739
|