Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Occasional [Orphanet] 322 / 7739
2
 (HPO:0001508) Failure to thrive 454 / 7739
3
 (HPO:0011968) Feeding difficulties 240 / 7739
4
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
5
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
6
 (HPO:0003220) Abnormality of chromosome stability Occasional [Orphanet] 98 / 7739
7
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
8
 (HPO:0000444) Convex nasal ridge Frequent [Orphanet] 87 / 7739
9
 (HPO:0000411) Protruding ear Frequent [Orphanet] 140 / 7739
10
 (HPO:0000347) Micrognathia 426 / 7739
11
 (HPO:0000695) Natal tooth Frequent [Orphanet] 42 / 7739
12
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
13
 (HPO:0000653) Sparse eyelashes 58 / 7739
14
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
15
 (HPO:0000325) Triangular face Very frequent [Orphanet] 91 / 7739
16
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
17
 (HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
18
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 298 / 7739
19
 (HPO:0001385) Hip dysplasia Very frequent [Orphanet] 242 / 7739
20
 (HPO:0000028) Cryptorchidism 347 / 7739
21
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
22
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
23
 (HPO:0000040) Long penis Occasional [Orphanet] 17 / 7739
24
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
25
 (HPO:0000365) Hearing impairment Very frequent [Orphanet] 539 / 7739
26
 (HPO:0000621) Entropion 12 / 7739
27
 (HPO:0000656) Ectropion 25 / 7739
28
 (HPO:0001601) Laryngomalacia Very frequent [Orphanet] 61 / 7739
29
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
30
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
31
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
32
 (HPO:0002209) Sparse scalp hair 59 / 7739
33
 (HPO:0011302) Long palm Very frequent [Orphanet] 70 / 7739
34
 (HPO:0100807) Long fingers 23 / 7739
35
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
36
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
37
 (HPO:0001249) Intellectual disability 1089 / 7739
38
 (HPO:0001263) Global developmental delay 853 / 7739
39
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
40
 (HPO:0000047) Hypospadias rare [HPO:skoehler] 250 / 7739
41
 (HPO:0000242) Parietal bossing 11 / 7739
42
 (HPO:0000272) Malar flattening 277 / 7739
43
 (HPO:0000316) Hypertelorism 644 / 7739
44
 (HPO:0000369) Low-set ears 372 / 7739
45
 (HPO:0000418) Narrow nasal ridge 15 / 7739
46
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
47
 (HPO:0000592) Blue sclerae 85 / 7739
48
 (HPO:0000639) Nystagmus 555 / 7739
49
 (HPO:0000771) Gynecomastia 53 / 7739
50
 (HPO:0000883) Thin ribs 31 / 7739
51
 (HPO:0000946) Hypoplastic ilia 21 / 7739
52
 (HPO:0003758) Reduced subcutaneous adipose tissue 27 / 7739
53
 (HPO:0001043) Prominent scalp veins 3 / 7739
54
 (HPO:0001176) Large hands 43 / 7739
55
 (HPO:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
56
 (HPO:0001792) Small nail 55 / 7739
57
 (HPO:0001833) Long foot 33 / 7739
58
 (HPO:0002015) Dysphagia 301 / 7739
59
 (HPO:0002078) Truncal ataxia 41 / 7739
60
 (HPO:0002080) Intention tremor 44 / 7739
61
 (HPO:0002155) Hypertriglyceridemia rare [HPO:skoehler] 67 / 7739
62
 (HPO:0002205) Recurrent respiratory infections 254 / 7739
63
 (HPO:0003097) Short femur 13 / 7739
64
 (HPO:0003269) Sudanophilic leukodystrophy 3 / 7739
65
 (HPO:0004492) Widely patent fontanelles and sutures 11 / 7739
66
 (HPO:0005792) Short humerus 34 / 7739
67
 (HPO:0007485) Absence of subcutaneous fat 6 / 7739
68
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes 41 / 7739
69
 (HPO:0010511) Long toe 9 / 7739
70
 (HPO:0100678) Premature skin wrinkling 25 / 7739
71
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
72
 (OMIM) Poor growth, postnatal 8 / 7739
73
 (OMIM) Apparent macrocephaly 1 / 7739
74
 (OMIM) Progeroid appearance 3 / 7739
75
 (OMIM) Aged face 1 / 7739
76
 (OMIM) Beak-shaped nose 1 / 7739
77
 (OMIM) Small, dense unerupted teeth 1 / 7739
78
 (OMIM) Prominent abdomen 7 / 7739
79
 (HPO:0009473) Joint contracture of the hand 84 / 7739
80
 (OMIM) Pseudohydrocephalus 1 / 7739
81
 (OMIM) Persistent fontanelles 1 / 7739
82
 (OMIM) Widely open sutures 1 / 7739
83
 (OMIM) Hypoplasia of the facial bones 1 / 7739
84
 (OMIM) Partly unossified atlas at birth 1 / 7739
85
 (OMIM) Vertebral body hypoplasia 1 / 7739
86
 (OMIM) Trident configuration of acetabula 1 / 7739
87
 (OMIM) Thin diaphyses 1 / 7739
88
 (OMIM) Irregular metaphyseal endplates 1 / 7739
89
 (OMIM) Long thin bones with enlarged metaphyseal endplates (1 report) 1 / 7739
90
 (OMIM) Large feet 12 / 7739
91
 (OMIM) Thin, wrinkled skin 2 / 7739
92
 (OMIM) Generalized lipoatrophy 2 / 7739
93
 (OMIM) Fat accumulation in the suprabuttock area 1 / 7739
94
 (OMIM) Mental retardation, mild to severe 14 / 7739
95
 (HPO:0001252) Muscular hypotonia 990 / 7739
96
 (HPO:0001324) Muscle weakness 859 / 7739
97
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
98
 (HPO:0010547) Muscle flaccidity 466 / 7739
99
 (OMIM) Endocrine abnormalities, variable, (less common) 1 / 7739
100
 (OMIM) Increased prolactin 1 / 7739
101
 (OMIM) Increased testosterone 1 / 7739
102
 (OMIM) Increased estradiol 1 / 7739
103
 (OMIM) Increased T4 1 / 7739
104
 (HPO:0001522) Death in infancy Frequent [Orphanet] 275 / 7739
105
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
106
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
107
 (HPO:0000492) Abnormality of the eyelid Frequent [Orphanet] 41 / 7739
108
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
109
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
110
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
111
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
112
 (HPO:0003577) Congenital onset 133 / 7739
113
 (HPO:0030088) Increased serum testosterone level 2 / 7739
114
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739