Symptom Information: Sort according to HPO 

1
 (HPO:0001761) Pes cavus Occasional [Orphanet] 225 / 7739
2
 (HPO:0000431) Wide nasal bridge Frequent [Orphanet] 20678247 IBIS 290 / 7739
3
 (HPO:0000568) Microphthalmia 183 / 7739
4
 (HPO:0000023) Inguinal hernia 181 / 7739
5
 (HPO:0002719) Recurrent infections 107 / 7739
6
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
7
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
8
 (HPO:0000490) Deeply set eye Occasional [Orphanet] 20678247 IBIS 131 / 7739
9
 (HPO:0002208) Coarse hair Occasional [Orphanet] 58 / 7739
10
 (HPO:0000319) Smooth philtrum 72 / 7739
11
 (HPO:0000752) Hyperactivity Occasional [Orphanet] 20678247 IBIS 140 / 7739
12
 (HPO:0007018) Attention deficit hyperactivity disorder 56 / 7739
13
 (HPO:0009928) Thick nasal alae Frequent [Orphanet] 21 / 7739
14
 (HPO:0000232) Everted lower lip vermilion Very frequent [Orphanet] 90 / 7739
15
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
16
 (HPO:0001869) Deep plantar creases Occasional [Orphanet] 14 / 7739
17
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
18
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
19
 (HPO:0001166) Arachnodactyly 20678247 IBIS 62 / 7739
20
 (HPO:0011302) Long palm Occasional [Orphanet] 70 / 7739
21
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
22
 (HPO:0000776) Congenital diaphragmatic hernia 20678247 IBIS 36 / 7739
23
 (HPO:0004279) Short palm Occasional [Orphanet] 20678247 IBIS 323 / 7739
24
 (HPO:0001836) Camptodactyly of toe Occasional [Orphanet] 27 / 7739
25
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
26
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
27
 (HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
28
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
29
 (HPO:0000356) Abnormality of the outer ear Frequent [Orphanet] 85 / 7739
30
 (HPO:0000275) Narrow face Frequent [Orphanet] 20678247 IBIS 76 / 7739
31
 (HPO:0000276) Long face Frequent [Orphanet] 20678247 IBIS 109 / 7739
32
 (HPO:0001852) Sandal gap Occasional [Orphanet] 63 / 7739
33
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
34
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
35
 (HPO:0001608) Abnormality of the voice Occasional [Orphanet] 20678247 IBIS 126 / 7739
36
 (HPO:0000218) High palate 356 / 7739
37
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
38
 (HPO:0100785) Insomnia Occasional [Orphanet] 18 / 7739
39
 (HPO:0200055) Small hand Occasional [Orphanet] 71 / 7739
40
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
41
 (HPO:0000426) Prominent nasal bridge Frequent [Orphanet] 121 / 7739
42
 (HPO:0000430) Underdeveloped nasal alae Occasional [Orphanet] 20678247 IBIS 90 / 7739
43
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
44
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
45
 (HPO:0000349) Widow's peak Frequent [Orphanet] 26 / 7739
46
 (HPO:0009890) High anterior hairline 20678247 IBIS 10 / 7739
47
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
48
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
49
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
50
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
51
 (HPO:0001382) Joint hypermobility Frequent [Orphanet] 231 / 7739
52
 (HPO:0001388) Joint laxity 117 / 7739
53
 (HPO:0009623) Proximal placement of thumb Frequent [Orphanet] 50 / 7739
54
 (HPO:0001249) Intellectual disability 1089 / 7739
55
 (HPO:0001263) Global developmental delay 853 / 7739
56
 (HPO:0000534) Abnormality of the eyebrow Frequent [Orphanet] 39 / 7739
57
 (HPO:0000028) Cryptorchidism 347 / 7739
58
 (HPO:0000054) Micropenis 257 / 7739
59
 (HPO:0000160) Narrow mouth 188 / 7739
60
 (HPO:0000179) Thick lower lip vermilion 72 / 7739
61
 (HPO:0000194) Open mouth 70 / 7739
62
 (HPO:0000233) Thin vermilion border 124 / 7739
63
 (HPO:0000308) Microretrognathia 78 / 7739
64
 (HPO:0000324) Facial asymmetry 20678247 IBIS 57 / 7739
65
 (HPO:0000348) High forehead 19921647 IBIS 157 / 7739
66
 (HPO:0000378) Cupped ear 34 / 7739
67
 (HPO:0000400) Macrotia 108 / 7739
68
 (HPO:0000445) Wide nose 190 / 7739
69
 (HPO:0000454) Flared nostrils 20678247 IBIS 11 / 7739
70
 (HPO:0000463) Anteverted nares 305 / 7739
71
 (HPO:0000540) Hypermetropia 99 / 7739
72
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
73
 (HPO:0000612) Iris coloboma 116 / 7739
74
 (HPO:0000687) Widely spaced teeth 40 / 7739
75
 (HPO:0000717) Autism 20678247 IBIS 108 / 7739
76
 (HPO:0000718) Aggressive behavior 20678247 IBIS 109 / 7739
77
 (HPO:0000750) Delayed speech and language development 197 / 7739
78
 (HPO:0000765) Abnormality of the thorax 20678247 IBIS 64 / 7739
79
 (HPO:0000824) Growth hormone deficiency 20678247 IBIS 56 / 7739
80
 (HPO:0000957) Cafe-au-lait spot 20678247 IBIS 84 / 7739
81
 (HPO:0001252) Muscular hypotonia 990 / 7739
82
 (HPO:0001324) Muscle weakness 859 / 7739
83
 (HPO:0001510) Growth delay 20678247 IBIS 295 / 7739
84
 (HPO:0001513) Obesity 20678247 IBIS 172 / 7739
85
 (HPO:0001518) Small for gestational age 107 / 7739
86
 (HPO:0001561) Polyhydramnios 20678247 IBIS 191 / 7739
87
 (HPO:0002360) Sleep disturbance 20678247 IBIS 113 / 7739
88
 (HPO:0002376) Developmental regression 20678247 IBIS 74 / 7739
89
 (HPO:0002589) Gastrointestinal atresia 3 / 7739
90
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
91
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
92
 (HPO:0006989) Dysplastic corpus callosum 7 / 7739
93
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
94
 (HPO:0008872) Feeding difficulties in infancy 20678247 IBIS 153 / 7739
95
 (HPO:0009466) Radial deviation of finger 20678247 IBIS 101 / 7739
96
 (HPO:0009778) Short thumb 50 / 7739
97
 (HPO:0009916) Anisocoria 11 / 7739
98
 (HPO:0010747) Medial flaring of the eyebrow 4 / 7739
99
 (HPO:0010978) Abnormality of immune system physiology Frequent [Orphanet] 148 / 7739
100
 (HPO:0100024) Conspicuously happy disposition 20678247 IBIS 5 / 7739
101
 (HPO:0100490) Camptodactyly of finger Occasional [Orphanet] 212 / 7739
102
 (OMIM) Poor growth, postnatal 8 / 7739
103
 (OMIM) Microphthalmia, mild 1 / 7739
104
 (OMIM) Hypopigmentation of the iris 1 / 7739
105
 (OMIM) Flaring of nasal alae 1 / 7739
106
 (OMIM) Short, wide nose 2 / 7739
107
 (OMIM) Digital abnormalities, variable 1 / 7739
108
 (MedDRA:10072883) Brachydactyly 153 / 7739
109
 (OMIM) Proximally implanted thumbs 1 / 7739
110
 (MedDRA:10058668) Clinodactyly 91 / 7739
111
 (OMIM) Abnormal insertion of the toes 1 / 7739
112
 (OMIM) Broad medial eyebrows that taper laterally 1 / 7739
113
 (OMIM) Loose connective tissue 1 / 7739
114
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
115
 (HPO:0010547) Muscle flaccidity 466 / 7739
116
 (OMIM) [DEL]Autistic features 43 / 7739
117
 (OMIM) Hypogondotropic hypogonadism (1 patient) 1 / 7739
118
 (OMIM) Contiguous gene deletion syndrome 23 / 7739
119
 (HPO:0000288) Abnormality of the philtrum Frequent [Orphanet] 54 / 7739
120
 (HPO:0002242) Abnormality of the intestine Frequent [Orphanet] 42 / 7739
121
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
122
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
123
 (HPO:0012639) Abnormality of nervous system morphology Occasional [Orphanet] 25 / 7739
124
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
125
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
126
 (HPO:0003745) Sporadic 131 / 7739
127
 (HPO:0003812) Phenotypic variability 129 / 7739
128
 (HPO:0030084) Clinodactyly 90 / 7739
129
 (HPO:0030260) Microphallus 6 / 7739
130
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739