1
|
(HPO:0000060)
|
Clitoral hypoplasia |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
2
|
(HPO:0000164)
|
Abnormality of the teeth |
rare [HPO:skoehler]
|
|
|
|
291 / 7739
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
4
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
5
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
6
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
7
|
(HPO:0000307)
|
Pointed chin |
|
|
|
|
45 / 7739
|
8
|
(HPO:0000316)
|
Hypertelorism |
rare [HPO:skoehler]
|
|
|
|
644 / 7739
|
9
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
10
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
11
|
(HPO:0000490)
|
Deeply set eye |
rare [HPO:skoehler]
|
|
|
|
131 / 7739
|
12
|
(HPO:0000798)
|
Oligospermia |
|
|
|
|
13 / 7739
|
13
|
(HPO:0000819)
|
Diabetes mellitus |
rare [HPO:skoehler]
|
|
|
|
131 / 7739
|
14
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
15
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
16
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
17
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
18
|
(HPO:0002376)
|
Developmental regression |
rare [HPO:skoehler]
|
|
|
|
74 / 7739
|
19
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
20
|
(HPO:0003187)
|
Breast hypoplasia |
rare [HPO:skoehler]
|
|
|
|
17 / 7739
|
21
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
22
|
(HPO:0004590)
|
Hypoplastic sacrum |
|
|
|
|
4 / 7739
|
23
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
24
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
25
|
(HPO:0008839)
|
Hypoplastic pelvis |
|
|
|
|
18 / 7739
|
26
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
27
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
28
|
(HPO:0010579)
|
Cone-shaped epiphysis |
|
|
|
|
54 / 7739
|
29
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
30
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
31
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
32
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|
33
|
(OMIM)
|
Short stature, disproportionate, prenatal onset |
|
|
|
|
1 / 7739
|
34
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
35
|
(OMIM)
|
Macrocephaly, relative, in childhood |
|
|
|
|
1 / 7739
|
36
|
(OMIM)
|
Microcephaly in adulthood |
|
|
|
|
1 / 7739
|
37
|
(OMIM)
|
Dolicocephaly (in some patients) |
|
|
|
|
3 / 7739
|
38
|
(OMIM)
|
Dental anomalies, variable (in some patients) |
|
|
|
|
1 / 7739
|
39
|
(OMIM)
|
Clitoral hypoplasia/aplasia (rare) |
|
|
|
|
1 / 7739
|
40
|
(OMIM)
|
Azoozpermia |
|
|
|
|
1 / 7739
|
41
|
(HPO:0001216)
|
Delayed ossification of carpal bones |
|
|
|
|
30 / 7739
|
42
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
43
|
(OMIM)
|
Vertebral body ossification delay |
|
|
|
|
1 / 7739
|
44
|
(OMIM)
|
Hypoplastic pelvis and sacrum |
|
|
|
|
1 / 7739
|
45
|
(OMIM)
|
Short long bones, especially femurs and humeri |
|
|
|
|
1 / 7739
|
46
|
(OMIM)
|
Thick long bones |
|
|
|
|
1 / 7739
|
47
|
(OMIM)
|
Irregular metaphyseal changes, mild |
|
|
|
|
1 / 7739
|
48
|
(OMIM)
|
Short long bones of hand |
|
|
|
|
1 / 7739
|
49
|
(MedDRA:10072883)
|
Brachydactyly |
|
|
|
|
153 / 7739
|
50
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
51
|
(OMIM)
|
Short carpals |
|
|
|
|
1 / 7739
|
52
|
(OMIM)
|
Short tarsals |
|
|
|
|
1 / 7739
|
53
|
(OMIM)
|
Sparse hair after puberty |
|
|
|
|
1 / 7739
|
54
|
(HPO:0001252)
|
Muscular hypotonia |
rare [HPO:skoehler]
|
|
|
|
990 / 7739
|
55
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
56
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
57
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
58
|
(OMIM)
|
Unusual, high-pitched voice |
|
|
|
|
1 / 7739
|
59
|
(HPO:0005978)
|
Type II diabetes mellitus |
|
|
|
|
68 / 7739
|
60
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
61
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
62
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|