1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
2
|
(HPO:0000046)
|
Scrotal hypoplasia |
|
|
|
|
54 / 7739
|
3
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
4
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
5
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
6
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
7
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
8
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
9
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
10
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
11
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
12
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
13
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
14
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
15
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
16
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
17
|
(HPO:0000444)
|
Convex nasal ridge |
|
|
|
|
87 / 7739
|
18
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
19
|
(HPO:0000454)
|
Flared nostrils |
|
|
|
|
11 / 7739
|
20
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
21
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
22
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
23
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
24
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
25
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
26
|
(HPO:0000736)
|
Short attention span |
|
|
|
|
16 / 7739
|
27
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
28
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
29
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
30
|
(HPO:0001263)
|
Global developmental delay |
variable [HPO:skoehler]
|
|
|
|
853 / 7739
|
31
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
32
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
33
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
34
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
35
|
(HPO:0001363)
|
Craniosynostosis |
rare [HPO:skoehler]
|
|
|
|
132 / 7739
|
36
|
(HPO:0011324)
|
Multiple suture craniosynostosis |
|
|
|
|
22 / 7739
|
37
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
38
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
39
|
(HPO:0001547)
|
Abnormality of the rib cage |
|
|
|
|
25 / 7739
|
40
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
41
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
42
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
43
|
(HPO:0011648)
|
Patent ductus arteriosus after birth at term |
|
|
|
|
18 / 7739
|
44
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
45
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
46
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
47
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
48
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
49
|
(HPO:0002162)
|
Low posterior hairline |
|
|
|
|
88 / 7739
|
50
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
51
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
52
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
53
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
54
|
(OMIM)
|
Rotated ears |
|
|
|
|
1 / 7739
|
55
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
56
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
57
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
58
|
(OMIM)
|
Structural inner ear abnormalities (in patients with larger deletions) |
|
|
|
|
1 / 7739
|
59
|
(OMIM)
|
Vestibular anomalies (less common) |
|
|
|
|
1 / 7739
|
60
|
(HPO:0004440)
|
Coronal craniosynostosis |
|
|
|
|
38 / 7739
|
61
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
62
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
63
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
64
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
65
|
(OMIM)
|
Developmental delay, variable |
|
|
|
|
1 / 7739
|
66
|
(OMIM)
|
Affectionate behavior |
|
|
|
|
1 / 7739
|
67
|
(OMIM)
|
Cytogenetic deletion of the terminal region of chromosome 10 (del(10)(q23.3-qter)) |
|
|
|
|
1 / 7739
|
68
|
(OMIM)
|
Cytogenetic breakpoints range from 10q23.3-q26.2 |
|
|
|
|
1 / 7739
|
69
|
(OMIM)
|
Contiguous gene deletion syndrome |
|
|
|
|
23 / 7739
|
70
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
71
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
72
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
73
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|