Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
2
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
3
 (HPO:0000572) Visual loss Very frequent [Orphanet] 272 / 7739
4
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
5
 (HPO:0002901) Hypocalcemia Very frequent [Orphanet] 56 / 7739
6
 (HPO:0003220) Abnormality of chromosome stability Occasional [Orphanet] 98 / 7739
7
 (HPO:0004760) Congenital septal defect Very frequent [Orphanet] 69 / 7739
8
 (HPO:0001903) Anemia Occasional [Orphanet] 289 / 7739
9
 (HPO:0000431) Wide nasal bridge Occasional [Orphanet] 290 / 7739
10
 (HPO:0000940) Abnormal diaphysis morphology Very frequent [Orphanet] 41 / 7739
11
 (HPO:0000545) Myopia Frequent [Orphanet] 286 / 7739
12
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
13
 (HPO:0010301) Spinal dysraphism Very frequent [Orphanet] 14 / 7739
14
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
15
 (HPO:0002992) Abnormality of the tibia Very frequent [Orphanet] 51 / 7739
16
 (HPO:0002777) Tracheal stenosis Very frequent [Orphanet] 35 / 7739
17
 (HPO:0003027) Mesomelia Very frequent [Orphanet] 58 / 7739
18
 (HPO:0005701) Multiple enchondromatosis Very frequent [Orphanet] 11 / 7739
19
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
20
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
21
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
22
 (HPO:0001874) Abnormality of neutrophils Very frequent [Orphanet] 47 / 7739
23
 (HPO:0001875) Neutropenia 83 / 7739
24
 (HPO:0004599) Absent or minimally ossified vertebral bodies Very frequent [Orphanet] 18 / 7739
25
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
26
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
27
 (HPO:0000772) Abnormality of the ribs Occasional [Orphanet] 146 / 7739
28
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
29
 (HPO:0002251) Aganglionic megacolon Occasional [Orphanet] 78 / 7739
30
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
31
 (HPO:0002240) Hepatomegaly Occasional [Orphanet] 467 / 7739
32
 (HPO:0100729) Large face Very frequent [Orphanet] 19 / 7739
33
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
34
 (HPO:0005616) Accelerated skeletal maturation Occasional [Orphanet] 46 / 7739
35
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
36
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
37
 (HPO:0010650) Hypoplasia of the premaxilla Very frequent [Orphanet] 39 / 7739
38
 (HPO:0000457) Depressed nasal ridge Occasional [Orphanet] 85 / 7739
39
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
40
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 136 / 7739
41
 (HPO:0000444) Convex nasal ridge Very frequent [Orphanet] 87 / 7739
42
 (HPO:0010769) Pilonidal sinus Occasional [Orphanet] 35 / 7739
43
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
44
 (HPO:0012090) Abnormality of pancreas morphology Very frequent [Orphanet] 31 / 7739
45
 (HPO:0001238) Slender finger Very frequent [Orphanet] 23 / 7739
46
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Occasional [Orphanet] 55 / 7739
47
 (HPO:0002644) Abnormality of pelvic girdle bone morphology 31 / 7739
48
 (HPO:0000592) Blue sclerae Very frequent [Orphanet] 85 / 7739
49
 (HPO:0005257) Thoracic hypoplasia Occasional [Orphanet] 79 / 7739
50
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
51
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
52
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
53
 (HPO:0000248) Brachycephaly Occasional [Orphanet] Occasional [HPO:probinson] 222 / 7739
54
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
55
 (HPO:0200055) Small hand Occasional [Orphanet] 71 / 7739
56
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
57
 (HPO:0000470) Short neck Very frequent [Orphanet] 345 / 7739
58
 (HPO:0000540) Hypermetropia Very frequent [Orphanet] 99 / 7739
59
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
60
 (HPO:0003307) Hyperlordosis Very frequent [Orphanet] 122 / 7739
61
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
62
 (HPO:0011020) Abnormality of mucopolysaccharide metabolism Frequent [Orphanet] 17 / 7739
63
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
64
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
65
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
66
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
67
 (HPO:0100759) Clubbing of fingers Very frequent [Orphanet] 40 / 7739
68
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
69
 (HPO:0100255) Metaphyseal dysplasia 26 / 7739
70
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
71
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
72
 (HPO:0000653) Sparse eyelashes 58 / 7739
73
 (HPO:0001377) Limited elbow extension 38 / 7739
74
 (HPO:0001888) Lymphopenia 43 / 7739
75
 (HPO:0001972) Macrocytic anemia 26 / 7739
76
 (HPO:0002032) Esophageal atresia 19 / 7739
77
 (HPO:0002213) Fine hair 77 / 7739
78
 (HPO:0002286) Fair hair 20 / 7739
79
 (HPO:0002665) Lymphoma Rare [HPO:probinson] 11124791 IBIS 60 / 7739
80
 (HPO:0003347) Impaired lymphocyte transformation with phytohemagglutinin 6 / 7739
81
 (HPO:0004810) Congenital hypoplastic anemia 4 / 7739
82
 (HPO:0005360) Susceptibility to chickenpox 1 / 7739
83
 (HPO:0005374) Cellular immunodeficiency 5 / 7739
84
 (HPO:0006589) Flaring of lower rib cage 1 / 7739
85
 (HPO:0007464) Sparse facial hair 2 / 7739
86
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
87
 (HPO:0008069) Neoplasm of the skin 84 / 7739
88
 (HPO:0008450) Narrow vertebral interpedicular distance 6 / 7739
89
 (HPO:0008921) Neonatal short-limb short stature 12 / 7739
90
 (OMIM) Average adult height, 107 to 143 cm 1 / 7739
91
 (OMIM) Weak or absent pubertal growth spurt 1 / 7739
92
 (OMIM) Specific growth curves are available 5 / 7739
93
 (OMIM) Normocephaly 10 / 7739
94
 (OMIM) Occasional brachycephaly 1 / 7739
95
 (OMIM) Normal 14 / 7739
96
 (OMIM) Occasional mild odontoid hypoplasia 1 / 7739
97
 (OMIM) Mild scoliosis 7 / 7739
98
 (OMIM) Small pelvic inlet 1 / 7739
99
 (HPO:0009815) Aplasia/hypoplasia of the extremities 6 / 7739
100
 (OMIM) Femurs mildly bowed 2 / 7739
101
 (OMIM) Tibia shorter than fibula 1 / 7739
102
 (OMIM) Joint hyperextensibility, especially hands, wrist, and feet 1 / 7739
103
 (OMIM) Fine, sparse, light-colored hair 1 / 7739
104
 (OMIM) Sparse eyebrows, eyelashes, and beard 1 / 7739
105
 (OMIM) Increased malignancy risk, especially lymphoma and skin neoplasm 1 / 7739
106
 (OMIM) Diminished lymphocyte response to phytohemaglutinin 1 / 7739
107
 (HPO:0011025) Abnormality of cardiovascular system physiology Occasional [Orphanet] 41 / 7739
108
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
109
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
110
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
111
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
112
 (HPO:0011867) Abnormality of the wing of the ilium Occasional [Orphanet] 123 / 7739
113
 (HPO:0010701) Abnormal immunoglobulin level Occasional [Orphanet] 49 / 7739
114
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739
115
 (HPO:0001638) Cardiomyopathy Very frequent [Orphanet] 192 / 7739
116
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
117
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
118
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
119
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
120
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
121
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
122
 (HPO:0003016) Metaphyseal widening 41 / 7739
123
 (HPO:0003021) Metaphyseal cupping 16 / 7739