Symptom Information: Sort according to HPO 

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