1
|
(HPO:0000076)
|
Vesicoureteral reflux |
rare [HPO:skoehler]
|
|
|
|
94 / 7739
|
2
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
3
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
29907875; 25692795
|
IBIS
|
37 / 7739
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
29907875; 25692795
|
IBIS
|
644 / 7739
|
5
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
6
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
7
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
8
|
(HPO:0000369)
|
Low-set ears |
|
|
25692795
|
IBIS
|
372 / 7739
|
9
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
10
|
(HPO:0000508)
|
Ptosis |
|
|
29907875
|
IBIS
|
459 / 7739
|
11
|
(HPO:0000648)
|
Optic atrophy |
|
|
25692795
|
IBIS
|
238 / 7739
|
12
|
(HPO:0001250)
|
Seizures |
|
|
29907875; 25692795; 23542699
|
IBIS
|
1245 / 7739
|
13
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
|
|
29 / 7739
|
14
|
(HPO:0001336)
|
Myoclonus |
|
|
|
|
115 / 7739
|
15
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
16
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
17
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
18
|
(HPO:0001655)
|
Patent foramen ovale |
|
|
|
|
31 / 7739
|
19
|
(HPO:0001667)
|
Right ventricular hypertrophy |
|
|
|
|
23 / 7739
|
20
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
21
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
29907875; 23542699
|
IBIS
|
171 / 7739
|
22
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
23
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
24
|
(HPO:0004322)
|
Short stature |
rare [HPO:skoehler]
|
|
|
|
1232 / 7739
|
25
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
26
|
(HPO:0010721)
|
Abnormal hair whorl |
|
|
|
|
3 / 7739
|
27
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
29907875; 25692795; 23542699
|
IBIS
|
46 / 7739
|
28
|
(HPO:0012448)
|
Delayed myelination |
|
|
|
|
51 / 7739
|
29
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
30
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
31
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
32
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
33
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
34
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
35
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
36
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
37
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|
38
|
(HPO:0011451)
|
Congenital microcephaly |
|
|
29907875; 25692795
|
IBIS
|
6 / 7739
|
39
|
(HPO:0025016)
|
Abnormal capillary morphology |
|
|
29907875; 25692795; 23542699
|
IBIS
|
1 / 7739
|
40
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
29907875
|
IBIS
|
169 / 7739
|
41
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
29907875
|
IBIS
|
98 / 7739
|
42
|
(HPO:0011968)
|
Feeding difficulties |
|
|
29907875
|
IBIS
|
240 / 7739
|
43
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
29907875
|
IBIS
|
197 / 7739
|
44
|
(HPO:0002361)
|
Psychomotor deterioration |
|
|
25692795
|
IBIS
|
26 / 7739
|
45
|
(HPO:0005306)
|
Capillary hemangiomas |
|
|
25692795
|
IBIS
|
8 / 7739
|
46
|
(HPO:0040168)
|
Focal seizures, afebril |
|
|
25692795
|
IBIS
|
6 / 7739
|
47
|
(HPO:0002901)
|
Hypocalcemia |
|
|
25692795
|
IBIS
|
56 / 7739
|
48
|
(HPO:0002133)
|
Status epilepticus |
|
|
25692795
|
IBIS
|
59 / 7739
|
49
|
(HPO:0012444)
|
Brain atrophy |
|
|
25692795
|
IBIS
|
24 / 7739
|
50
|
(HPO:0100874)
|
Thick hair |
|
|
25692795
|
IBIS
|
7 / 7739
|
51
|
(HPO:0002216)
|
Premature graying of hair |
|
|
25692795
|
IBIS
|
43 / 7739
|
52
|
(HPO:0002229)
|
Alopecia areata |
|
|
25692795
|
IBIS
|
5 / 7739
|
53
|
(HPO:0000486)
|
Strabismus |
|
|
25692795
|
IBIS
|
576 / 7739
|
54
|
(HPO:0000348)
|
High forehead |
|
|
25692795
|
IBIS
|
157 / 7739
|
55
|
(HPO:0000286)
|
Epicanthus |
|
|
25692795
|
IBIS
|
371 / 7739
|
56
|
(HPO:0000400)
|
Macrotia |
|
|
25692795
|
IBIS
|
108 / 7739
|
57
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
25692795
|
IBIS
|
77 / 7739
|
58
|
(HPO:0006801)
|
Hyperactive deep tendon reflexes |
|
|
25692795
|
IBIS
|
21 / 7739
|
59
|
(HPO:0001831)
|
Short toe |
|
|
25692795
|
IBIS
|
52 / 7739
|
60
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
25692795
|
IBIS
|
524 / 7739
|
61
|
(HPO:0002925)
|
Thyroid-stimulating hormone excess |
|
|
25692795
|
IBIS
|
12 / 7739
|
62
|
(MedDRA:10043816)
|
Thyroxine decreased |
|
|
25692795
|
IBIS
|
3 / 7739
|
63
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
25692795
|
IBIS
|
328 / 7739
|
64
|
(HPO:0000154)
|
Wide mouth |
|
|
25692795
|
IBIS
|
137 / 7739
|
65
|
(HPO:0000343)
|
Long philtrum |
|
|
25692795
|
IBIS
|
262 / 7739
|
66
|
(HPO:0030033)
|
Small finger |
|
|
25692795
|
IBIS
|
2 / 7739
|
67
|
(HPO:0001231)
|
Abnormality of the fingernails |
|
|
25692795
|
IBIS
|
116 / 7739
|
68
|
(HPO:0006808)
|
Cerebral hypomyelination |
|
|
23542699
|
IBIS
|
16 / 7739
|
69
|
(OMIM)
|
Abnormal hippocampus |
|
|
23542699
|
IBIS
|
2 / 7739
|
70
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
23542699
|
IBIS
|
44 / 7739
|
71
|
(HPO:0012469)
|
Infantile spasms |
|
|
23542699
|
IBIS
|
18 / 7739
|
72
|
(HPO:0009835)
|
Aplasia/Hypoplasia of the distal phalanges of the hand |
|
|
23542699
|
IBIS
|
9 / 7739
|
73
|
(HPO:0010185)
|
Aplasia/Hypoplasia of the distal phalanges of the toes |
|
|
23542699
|
IBIS
|
4 / 7739
|