1
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
2
|
(HPO:0000176)
|
Submucous cleft hard palate |
|
|
|
|
19 / 7739
|
3
|
(HPO:0000185)
|
Cleft soft palate |
|
|
|
|
18 / 7739
|
4
|
(HPO:0011819)
|
Submucous cleft soft palate |
|
|
|
|
12 / 7739
|
5
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
6
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
7
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
8
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
9
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
10
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
11
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
12
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
13
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
14
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
15
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
16
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
17
|
(HPO:0000414)
|
Bulbous nose |
|
|
|
|
63 / 7739
|
18
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
19
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
20
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
21
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
22
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
23
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
24
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
25
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
|
|
54 / 7739
|
26
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
27
|
(HPO:0010807)
|
Open bite |
|
|
|
|
6 / 7739
|
28
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
29
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
30
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
31
|
(HPO:0000962)
|
Hyperkeratosis |
|
|
|
|
216 / 7739
|
32
|
(HPO:0005595)
|
Generalized hyperkeratosis |
|
|
|
|
14 / 7739
|
33
|
(HPO:0001003)
|
Multiple lentigines |
|
|
|
|
11 / 7739
|
34
|
(HPO:0001048)
|
Cavernous hemangioma |
|
|
|
|
28 / 7739
|
35
|
(HPO:0001093)
|
Optic nerve dysplasia |
|
|
|
|
6 / 7739
|
36
|
(HPO:0001187)
|
Hyperextensibility of the finger joints |
|
|
|
|
12 / 7739
|
37
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
38
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
39
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
40
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
41
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
42
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
43
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
44
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
45
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
|
|
137 / 7739
|
46
|
(HPO:0001642)
|
Pulmonic stenosis |
|
|
|
|
89 / 7739
|
47
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
48
|
(HPO:0002002)
|
Deep philtrum |
|
|
|
|
42 / 7739
|
49
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
50
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
51
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
52
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
53
|
(HPO:0002217)
|
Slow-growing hair |
|
|
|
|
22 / 7739
|
54
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
55
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
56
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
57
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
58
|
(HPO:0006114)
|
Multiple palmar creases |
|
|
|
|
3 / 7739
|
59
|
(HPO:0007333)
|
Hypoplasia of the frontal lobes |
|
|
|
|
5 / 7739
|
60
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
|
|
|
|
180 / 7739
|
61
|
(HPO:0008064)
|
Ichthyosis |
|
|
|
|
108 / 7739
|
62
|
(HPO:0008113)
|
Multiple plantar creases |
|
|
|
|
2 / 7739
|
63
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
|
|
|
|
36 / 7739
|
64
|
(HPO:0009908)
|
Anterior creases of earlobe |
|
|
|
|
10 / 7739
|
65
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
66
|
(HPO:0100703)
|
Tongue thrusting |
|
|
|
|
4 / 7739
|
67
|
(OMIM)
|
Postnatal short stature |
|
|
|
|
4 / 7739
|
68
|
(OMIM)
|
Convex facial profile |
|
|
|
|
1 / 7739
|
69
|
(OMIM)
|
Absence of eyebrows |
|
|
|
|
1 / 7739
|
70
|
(OMIM)
|
Absence of eyelashes |
|
|
|
|
1 / 7739
|
71
|
(OMIM)
|
Short upturned nose |
|
|
|
|
6 / 7739
|
72
|
(OMIM)
|
Posterior crossbite |
|
|
|
|
3 / 7739
|
73
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
74
|
(OMIM)
|
Dysmotility |
|
|
|
|
3 / 7739
|
75
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
76
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
77
|
(OMIM)
|
Severe atopic dermatitis |
|
|
|
|
1 / 7739
|
78
|
(HPO:0007468)
|
Perifollicular hyperkeratosis |
|
|
|
|
4 / 7739
|
79
|
(HPO:0008399)
|
Circumungual hyperkeratosis |
|
|
|
|
4 / 7739
|
80
|
(MedDRA:10066295)
|
Keratosis pilaris |
|
|
|
|
11 / 7739
|
81
|
(OMIM)
|
Sparse, curly hair |
|
|
|
|
1 / 7739
|
82
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
83
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
84
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
85
|
(OMIM)
|
Brain stem atrophy |
|
|
|
|
3 / 7739
|