Symptom Information: Sort according to HPO 

1
 (HPO:0001513) Obesity Frequent [Orphanet] hallmark [HPO] 172 / 7739
2
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
3
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
4
 (HPO:0100651) Type I diabetes mellitus Frequent [Orphanet] 44 / 7739
5
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
6
 (HPO:0002066) Gait ataxia Frequent [Orphanet] 327 / 7739
7
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
8
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
9
 (HPO:0002650) Scoliosis Frequent [Orphanet] typical [HPO] 705 / 7739
10
 (HPO:0000028) Cryptorchidism 85% [HPO] 347 / 7739
11
 (HPO:0009553) Abnormality of the hairline Frequent [Orphanet] 30 / 7739
12
 (HPO:0000823) Delayed puberty typical [HPO] 65 / 7739
13
 (HPO:0100720) Hypoplasia of the ear cartilage Frequent [Orphanet] 12 / 7739
14
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
15
 (HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
16
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
17
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
18
 (HPO:0001250) Seizures Frequent [Orphanet] 15% [HPO] 1245 / 7739
19
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
20
 (HPO:0004322) Short stature Frequent [Orphanet] hallmark [HPO] 1232 / 7739
21
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
22
 (HPO:0002714) Downturned corners of mouth Frequent [Orphanet] typical [HPO] 98 / 7739
23
 (HPO:0000054) Micropenis Frequent [Orphanet] typical [HPO] 257 / 7739
24
 (HPO:0004279) Short palm Frequent [Orphanet] hallmark [HPO] 323 / 7739
25
 (HPO:0001263) Global developmental delay hallmark [HPO] 853 / 7739
26
 (HPO:0001270) Motor delay hallmark [HPO] 322 / 7739
27
 (HPO:0001328) Specific learning disability hallmark [HPO] 114 / 7739
28
 (HPO:0002750) Delayed skeletal maturation Frequent [Orphanet] 250 / 7739
29
 (HPO:0100820) Glomerulopathy Frequent [Orphanet] 46 / 7739
30
 (HPO:0000044) Hypogonadotrophic hypogonadism hallmark [HPO] 56 / 7739
31
 (HPO:0000046) Scrotal hypoplasia 69% [HPO] 54 / 7739
32
 (HPO:0000060) Clitoral hypoplasia typical [HPO] 9 / 7739
33
 (HPO:0000064) Hypoplastic labia minora typical [HPO] 7 / 7739
34
 (HPO:0000219) Thin upper lip vermilion typical [HPO] 112 / 7739
35
 (HPO:0000268) Dolichocephaly 144 / 7739
36
 (HPO:0000341) Narrow forehead typical [HPO] 96 / 7739
37
 (HPO:0000446) Narrow nasal bridge typical [HPO] 29 / 7739
38
 (HPO:0000540) Hypermetropia 99 / 7739
39
 (HPO:0000545) Myopia occasional [HPO] 286 / 7739
40
 (HPO:0000565) Esotropia occasional [HPO] 58 / 7739
41
 (HPO:0000582) Upslanted palpebral fissure occasional [HPO] 185 / 7739
42
 (HPO:0000670) Carious teeth occasional [HPO] 145 / 7739
43
 (HPO:0000709) Psychosis 15% [HPO] 61 / 7739
44
 (HPO:0000717) Autism 19% [HPO] 108 / 7739
45
 (HPO:0000750) Delayed speech and language development hallmark [HPO] 197 / 7739
46
 (HPO:0000786) Primary amenorrhea 56% [HPO] 61 / 7739
47
 (HPO:0000789) Infertility hallmark [HPO] 74 / 7739
48
 (HPO:0000824) Growth hormone deficiency hallmark [HPO] 56 / 7739
49
 (HPO:0000826) Precocious puberty 4% [HPO] 42 / 7739
50
 (HPO:0000842) Hyperinsulinemia 39 / 7739
51
 (HPO:0000846) Adrenal insufficiency 60% [HPO] 24 / 7739
52
 (HPO:0000876) Oligomenorrhea frequent [HPO] 13 / 7739
53
 (HPO:0000938) Osteopenia occasional [HPO] 138 / 7739
54
 (HPO:0000939) Osteoporosis occasional [HPO] 129 / 7739
55
 (HPO:0000992) Cutaneous photosensitivity typical [HPO] 75 / 7739
56
 (HPO:0001010) Hypopigmentation of the skin 33% [HPO] 46 / 7739
57
 (HPO:0007513) Generalized hypopigmentation 12 / 7739
58
 (HPO:0001159) Syndactyly occasional [HPO] 140 / 7739
59
 (HPO:0001290) Generalized hypotonia hallmark [HPO:probinson] 51 / 7739
60
 (HPO:0001385) Hip dysplasia 10% [HPO] 242 / 7739
61
 (HPO:0001531) Failure to thrive in infancy hallmark [HPO] 26 / 7739
62
 (HPO:0001558) Decreased fetal movement 74 / 7739
63
 (HPO:0001611) Nasal speech typical [HPO] 48 / 7739
64
 (HPO:0001773) Short foot hallmark [HPO] 86 / 7739
65
 (HPO:0002033) Poor suck hallmark [HPO] 37 / 7739
66
 (HPO:0002119) Ventriculomegaly frequent [HPO] 253 / 7739
67
 (HPO:0002205) Recurrent respiratory infections typical [HPO] 254 / 7739
68
 (HPO:0002236) Frontal upsweep of hair occasional [HPO] 8 / 7739
69
 (HPO:0002591) Polyphagia hallmark [HPO] 25 / 7739
70
 (HPO:0002791) Hypoventilation 10 / 7739
71
 (HPO:0002808) Kyphosis typical [HPO] 289 / 7739
72
 (HPO:0003199) Decreased muscle mass typical [HPO] 27 / 7739
73
 (HPO:0004283) Narrow palm hallmark [HPO] 8 / 7739
74
 (HPO:0005599) Hypopigmentation of hair 33% [HPO] 38 / 7739
75
 (HPO:0005968) Temperature instability occasional [HPO] 5 / 7739
76
 (HPO:0005978) Type II diabetes mellitus 25% [HPO] 68 / 7739
77
 (HPO:0007010) Poor fine motor coordination occasional [HPO] 4 / 7739
78
 (HPO:0007015) Poor gross motor coordination 2 / 7739
79
 (HPO:0007018) Attention deficit hyperactivity disorder common [HPO] 56 / 7739
80
 (HPO:0007328) Impaired pain sensation frequent [HPO] 10 / 7739
81
 (HPO:0007730) Iris hypopigmentation 33% [HPO] 4 / 7739
82
 (HPO:0007874) Almond-shaped palpebral fissure typical [HPO] 4 / 7739
83
 (HPO:0010535) Sleep apnea typical [HPO] 24 / 7739
84
 (OMIM) Birth length normal 15 / 7739
85
 (OMIM) Length deceleration in first few months 1 / 7739
86
 (OMIM) Mean adult male height, 155 cm 1 / 7739
87
 (OMIM) Mean adult female height, 147 cm 1 / 7739
88
 (OMIM) Steady childhood growth 1 / 7739
89
 (OMIM) Fall-off in adolescent growth 1 / 7739
90
 (OMIM) Onset of obesity from 6 months to 6 years 1 / 7739
91
 (HPO:0001956) Truncal obesity 39 / 7739
92
 (OMIM) Almond-shaped eyes 12 / 7739
93
 (OMIM) Small-appearing mouth 1 / 7739
94
 (OMIM) Down-turned corners of mouth 1 / 7739
95
 (OMIM) Thick, viscous saliva 1 / 7739
96
 (MedDRA:10021143) [DEL] Hypoxia 5 / 7739
97
 (OMIM) Feeding problems in infancy requiring gavage feeds 1 / 7739
98
 (OMIM) Decreased vomiting 1 / 7739
99
 (HPO:0000141) Amenorrhea 16 / 7739
100
 (HPO:0200055) Small hand 71 / 7739
101
 (OMIM) Narrow hands with straight ulnar border 1 / 7739
102
 (MedDRA:10058668) Clinodactyly 91 / 7739
103
 (HPO:0001786) Narrow foot 11 / 7739
104
 (OMIM) Blonde to light brown hair 1 / 7739
105
 (OMIM) Frontal hair upsweep 2 / 7739
106
 (OMIM) Mental retardation, mild to moderate 33 / 7739
107
 (OMIM) Severe neonatal hypotonia improving with age 1 / 7739
108
 (OMIM) Normal neuromuscular studies 1 / 7739
109
 (HPO:0002360) Sleep disturbance 113 / 7739
110
 (OMIM) High pain threshold 1 / 7739
111
 (OMIM) Poor neonatal suck and swallow reflexes 1 / 7739
112
 (OMIM) Speech articulation problems 1 / 7739
113
 (OMIM) Childhood polyphagia 1 / 7739
114
 (OMIM) Weak or squeaky cry in infancy 1 / 7739
115
 (HPO:0001428) Somatic mutation Frequent [Orphanet] 100 / 7739
116
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
117
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
118
 (HPO:0003220) Abnormality of chromosome stability Frequent [Orphanet] 98 / 7739
119
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
120
 (HPO:0003745) Sporadic 131 / 7739
121
 (HPO:0009466) Radial deviation of finger occasional [HPO] 101 / 7739
122
 (HPO:0012743) Abdominal obesity 6 / 7739
123
 (HPO:0030084) Clinodactyly 90 / 7739