1
|
(HPO:0000820)
|
Abnormality of the thyroid gland |
Occasional [Orphanet]
|
|
|
|
19 / 7739
|
2
|
(HPO:0000835)
|
Adrenal hypoplasia |
|
|
|
|
23 / 7739
|
3
|
(HPO:0008207)
|
Primary adrenal insufficiency |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
4
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
5
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
6
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
7
|
(HPO:0002023)
|
Anal atresia |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
8
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
9
|
(HPO:0000708)
|
Behavioral abnormality |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
10
|
(HPO:0003027)
|
Mesomelia |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
11
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
12
|
(HPO:0000826)
|
Precocious puberty |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
13
|
(HPO:0001654)
|
Abnormality of the heart valves |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
14
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
15
|
(HPO:0000171)
|
Microglossia |
Frequent [Orphanet]
|
|
|
|
27 / 7739
|
16
|
(HPO:0001770)
|
Toe syndactyly |
Occasional [Orphanet]
|
|
|
|
149 / 7739
|
17
|
(HPO:0010285)
|
Oral synechia |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
18
|
(HPO:0002101)
|
Abnormal lung lobation |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
19
|
(HPO:0001162)
|
Postaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
20
|
(HPO:0003196)
|
Short nose |
Frequent [Orphanet]
|
|
|
|
264 / 7739
|
21
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Occasional [Orphanet]
|
|
|
|
172 / 7739
|
22
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
23
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
24
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
25
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
26
|
(HPO:0001830)
|
Postaxial foot polydactyly |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
27
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
28
|
(HPO:0000054)
|
Micropenis |
Frequent [Orphanet]
|
|
|
|
257 / 7739
|
29
|
(HPO:0004279)
|
Short palm |
Occasional [Orphanet]
|
|
|
|
323 / 7739
|
30
|
(HPO:0001643)
|
Patent ductus arteriosus |
Occasional [Orphanet]
|
|
|
|
228 / 7739
|
31
|
(HPO:0000864)
|
Abnormality of the hypothalamus-pituitary axis |
Very frequent [Orphanet]
|
|
|
|
23 / 7739
|
32
|
(HPO:0000086)
|
Ectopic kidney |
|
|
|
|
29 / 7739
|
33
|
(HPO:0000107)
|
Renal cyst |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
34
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
35
|
(HPO:0000413)
|
Atresia of the external auditory canal |
|
|
|
|
32 / 7739
|
36
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
37
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
38
|
(HPO:0000695)
|
Natal tooth |
|
|
|
|
42 / 7739
|
39
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
|
|
56 / 7739
|
40
|
(HPO:0000871)
|
Panhypopituitarism |
|
|
|
|
8 / 7739
|
41
|
(HPO:0000902)
|
Rib fusion |
|
|
|
|
19 / 7739
|
42
|
(HPO:0001360)
|
Holoprosencephaly |
|
|
|
|
29 / 7739
|
43
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
44
|
(HPO:0002444)
|
Hypothalamic hamartoma |
|
|
|
|
5 / 7739
|
45
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
46
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
47
|
(HPO:0003048)
|
Radial head subluxation |
|
|
|
|
6 / 7739
|
48
|
(HPO:0005151)
|
Preductal coarctation of the aorta |
|
|
|
|
1 / 7739
|
49
|
(HPO:0005349)
|
Hypoplasia of the epiglottis |
|
|
15782417
|
IBIS
|
7 / 7739
|
50
|
(HPO:0006042)
|
Y-shaped metacarpals |
|
|
|
|
3 / 7739
|
51
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
52
|
(HPO:0006159)
|
Mesoaxial hand polydactyly |
|
|
|
|
5 / 7739
|
53
|
(HPO:0006402)
|
Distal shortening of limbs |
|
|
|
|
2 / 7739
|
54
|
(HPO:0007601)
|
Midline facial capillary hemangioma |
|
|
|
|
1 / 7739
|
55
|
(HPO:0008188)
|
Thyroid dysgenesis |
|
|
|
|
1 / 7739
|
56
|
(HPO:0008220)
|
Hypocortisolemia |
|
|
|
|
6 / 7739
|
57
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
58
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
59
|
(HPO:0008706)
|
Distal urethral duplication |
|
|
|
|
2 / 7739
|
60
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|
61
|
(HPO:0008751)
|
Laryngeal cleft |
|
|
|
|
5 / 7739
|
62
|
(HPO:0010044)
|
Short 4th metacarpal |
|
|
|
|
14 / 7739
|
63
|
(HPO:0010112)
|
Mesoaxial foot polydactyly |
|
|
|
|
1 / 7739
|
64
|
(HPO:0010564)
|
Bifid epiglottis |
|
|
15782417
|
IBIS
|
2 / 7739
|
65
|
(HPO:0012165)
|
Oligodactyly |
|
|
|
|
18 / 7739
|
66
|
(OMIM)
|
Simple auricles |
|
|
|
|
2 / 7739
|
67
|
(OMIM)
|
Multiple buccal frenula |
|
|
|
|
1 / 7739
|
68
|
(HPO:0000202)
|
Oral cleft |
|
|
|
|
120 / 7739
|
69
|
(OMIM)
|
Bifid or hypoplastic epiglottis |
|
|
|
|
1 / 7739
|
70
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
71
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
72
|
(OMIM)
|
Hypothalamic hamartoblastoma |
|
|
|
|
1 / 7739
|
73
|
(OMIM)
|
Pituitary aplasia or dysplasia |
|
|
|
|
1 / 7739
|
74
|
(OMIM)
|
Thyroid dysplasia/aplasia |
|
|
|
|
1 / 7739
|
75
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
76
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
77
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
78
|
(HPO:0040075)
|
Hypopituitarism |
Frequent [Orphanet]
|
|
|
|
32 / 7739
|
79
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
80
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
81
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
82
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
83
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
84
|
(HPO:0003811)
|
Neonatal death |
|
|
|
|
44 / 7739
|
85
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|