Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
2
 (HPO:0005990) Thyroid hypoplasia Occasional [Orphanet] 21 / 7739
3
 (HPO:0001252) Muscular hypotonia Occasional [Orphanet] 990 / 7739
4
 (HPO:0001324) Muscle weakness 859 / 7739
5
 (HPO:0003103) Abnormal cortical bone morphology Very frequent [Orphanet] 38 / 7739
6
 (HPO:0002857) Genu valgum Frequent [Orphanet] 144 / 7739
7
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
8
 (HPO:0010769) Pilonidal sinus Occasional [Orphanet] 35 / 7739
9
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
10
 (HPO:0004370) Abnormality of temperature regulation Very frequent [Orphanet] 58 / 7739
11
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
12
 (HPO:0001315) Reduced tendon reflexes Occasional [Orphanet] 160 / 7739
13
 (HPO:0002099) Asthma Frequent [Orphanet] 62 / 7739
14
 (HPO:0007021) Pain insensitivity Frequent [Orphanet] 35 / 7739
15
 (HPO:0003394) Muscle cramps Frequent [Orphanet] 106 / 7739
16
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
17
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
18
 (HPO:0002270) Abnormality of the autonomic nervous system Very frequent [Orphanet] 22 / 7739
19
 (HPO:0002459) Dysautonomia 34 / 7739
20
 (HPO:0000478) Abnormality of the eye Very frequent [Orphanet] 126 / 7739
21
 (HPO:0002659) Increased susceptibility to fractures Frequent [Orphanet] 110 / 7739
22
 (HPO:0000821) Hypothyroidism Occasional [Orphanet] 141 / 7739
23
 (HPO:0000939) Osteoporosis 129 / 7739
24
 (HPO:0100490) Camptodactyly of finger Very frequent [Orphanet] 212 / 7739
25
 (HPO:0002104) Apnea Frequent [Orphanet] 106 / 7739
26
 (HPO:0006487) Bowing of the long bones Very frequent [Orphanet] 95 / 7739
27
 (HPO:0002015) Dysphagia Very frequent [Orphanet] 301 / 7739
28
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
29
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
30
 (HPO:0000944) Abnormality of the metaphyses Very frequent [Orphanet] 141 / 7739
31
 (HPO:0001836) Camptodactyly of toe Frequent [Orphanet] 27 / 7739
32
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
33
 (HPO:0000632) Lacrimation abnormality Frequent [Orphanet] 42 / 7739
34
 (HPO:0001562) Oligohydramnios Frequent [Orphanet] 75 / 7739
35
 (HPO:0000205) Pursed lips 6 / 7739
36
 (HPO:0000272) Malar flattening 277 / 7739
37
 (HPO:0000321) Square face 4 / 7739
38
 (HPO:0000347) Micrognathia 426 / 7739
39
 (HPO:0000369) Low-set ears 372 / 7739
40
 (HPO:0000470) Short neck 345 / 7739
41
 (HPO:0000581) Blepharophimosis 197 / 7739
42
 (HPO:0000682) Abnormality of dental enamel 102 / 7739
43
 (HPO:0000883) Thin ribs 31 / 7739
44
 (HPO:0000935) Thickened cortex of long bones 8 / 7739
45
 (HPO:0000954) Single transverse palmar crease 162 / 7739
46
 (HPO:0000963) Thin skin 96 / 7739
47
 (HPO:0001181) Adducted thumb 31 / 7739
48
 (HPO:0001609) Hoarse voice 34 / 7739
49
 (HPO:0001611) Nasal speech 48 / 7739
50
 (HPO:0001954) Episodic fever 27 / 7739
51
 (HPO:0002007) Frontal bossing 366 / 7739
52
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
53
 (HPO:0002092) Pulmonary hypertension 109 / 7739
54
 (HPO:0002486) Myotonia 29 / 7739
55
 (HPO:0002756) Pathologic fracture 30 / 7739
56
 (HPO:0002987) Elbow flexion contracture 64 / 7739
57
 (HPO:0003015) Flared metaphysis 44 / 7739
58
 (HPO:0003196) Short nose 264 / 7739
59
 (HPO:0004684) Talipes valgus 28 / 7739
60
 (HPO:0004964) Pulmonary arterial medial hypertrophy 2 / 7739
61
 (HPO:0004980) Metaphyseal rarefaction 1 / 7739
62
 (HPO:0005089) Abnormal metaphyseal trabeculation 3 / 7739
63
 (HPO:0005736) Short tibia 19 / 7739
64
 (HPO:0009185) Contracture of the proximal interphalangeal joint of the 5th finger 3 / 7739
65
 (HPO:0006380) Knee flexion contracture 56 / 7739
66
 (HPO:0006844) Absent patellar reflexes 2 / 7739
67
 (HPO:0007610) Blotching pigmentation of the skin 3 / 7739
68
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
69
 (HPO:0007957) Corneal opacity 84 / 7739
70
 (HPO:0008824) Hypoplastic iliac body 3 / 7739
71
 (HPO:0004097) Deviation of finger 13 / 7739
72
 (HPO:0009465) Ulnar deviation of finger 48 / 7739
73
 (HPO:0009803) Short phalanx of finger 79 / 7739
74
 (HPO:0010298) Smooth tongue 2 / 7739
75
 (HPO:0011800) Midface retrusion 221 / 7739
76
 (HPO:0011968) Feeding difficulties 240 / 7739
77
 (HPO:0100865) Broad ischia 4 / 7739
78
 (OMIM) Postnatal short stature 4 / 7739
79
 (OMIM) Facial myotonia 1 / 7739
80
 (OMIM) Absent corneal reflexes 2 / 7739
81
 (HPO:0008000) Decreased corneal reflex 2 / 7739
82
 (OMIM) Wide nasal base 1 / 7739
83
 (OMIM) Smooth tongue without fungiform papillae (in older children) 1 / 7739
84
 (OMIM) Ulcers of the tongue due to decreased sensation 1 / 7739
85
 (OMIM) Poor dentition (in older children) 1 / 7739
86
 (OMIM) Mottled enamel 1 / 7739
87
 (OMIM) Chronic tooth abscesses 1 / 7739
88
 (OMIM) Broad coracoid processes 1 / 7739
89
 (OMIM) Long scapulae 1 / 7739
90
 (OMIM) Progressive scoliosis 6 / 7739
91
 (OMIM) Broad pubic bones 1 / 7739
92
 (OMIM) Broad ischial bones 1 / 7739
93
 (OMIM) Relatively small ilia 1 / 7739
94
 (OMIM) Congenital bowing of the long bones (lower extremity greater than upper extremity) 1 / 7739
95
 (OMIM) Short, thick long bones 1 / 7739
96
 (OMIM) Bowed, short femora 4 / 7739
97
 (OMIM) Bowed, short tibiae 4 / 7739
98
 (OMIM) Long bones have wide, flared metaphyses with decreased density 1 / 7739
99
 (OMIM) Radiolucent metaphyses have abnormal trabecular pattern 1 / 7739
100
 (OMIM) Striation of the metaphyses 1 / 7739
101
 (OMIM) Undertubulation of the diaphyses 1 / 7739
102
 (OMIM) Camptodactyly with ulnar deviation 1 / 7739
103
 (OMIM) Prominent joints 4 / 7739
104
 (HPO:0012385) Camptodactyly 113 / 7739
105
 (OMIM) Flexion contractures of the toes 2 / 7739
106
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
107
 (HPO:0010547) Muscle flaccidity 466 / 7739
108
 (OMIM) Normal intelligence 81 / 7739
109
 (OMIM) Decreased pain sensation in extremities 1 / 7739
110
 (HPO:0000163) Abnormality of the oral cavity Frequent [Orphanet] 37 / 7739
111
 (HPO:0004349) Reduced bone mineral density Frequent [Orphanet] 165 / 7739
112
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
113
 (HPO:0000763) Sensory neuropathy Very frequent [Orphanet] 78 / 7739
114
 (HPO:0001357) Plagiocephaly Very frequent [Orphanet] 106 / 7739
115
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
116
 (HPO:0001883) Talipes 12 / 7739
117
 (HPO:0002980) Femoral bowing 36 / 7739
118
 (HPO:0002982) Tibial bowing 36 / 7739
119
 (HPO:0007328) Impaired pain sensation 10 / 7739
120
 (HPO:0012745) Short palpebral fissure 47 / 7739
121
 (HPO:0012810) Wide nasal base 3 / 7739