Symptom Information: Sort according to HPO 

1
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
2
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
3
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
4
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
5
 (HPO:0000298) Mask-like facies Very frequent [Orphanet] 44 / 7739
6
 (HPO:0000193) Bifid uvula 11% [HPO:probinson] 66 / 7739
7
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
8
 (HPO:0001840) Metatarsus adductus 49 / 7739
9
 (HPO:0004696) Talipes cavus equinovarus 13 / 7739
10
 (HPO:0000957) Cafe-au-lait spot Occasional [Orphanet] 84 / 7739
11
 (HPO:0000691) Microdontia Occasional [Orphanet] 104 / 7739
12
 (HPO:0100783) Breast aplasia Occasional [Orphanet] 19 / 7739
13
 (HPO:0000347) Micrognathia 64% [HPO:probinson] 426 / 7739
14
 (HPO:0000498) Blepharitis Occasional [Orphanet] 27 / 7739
15
 (HPO:0002997) Abnormality of the ulna Occasional [Orphanet] 75 / 7739
16
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
17
 (HPO:0000218) High palate 356 / 7739
18
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
19
 (HPO:0002818) Abnormality of the radius Occasional [Orphanet] 96 / 7739
20
 (HPO:0000597) Ophthalmoparesis Very frequent [Orphanet] 71 / 7739
21
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
22
 (HPO:0006824) Cranial nerve paralysis Very frequent [Orphanet] 81 / 7739
23
 (HPO:0010628) Facial palsy Very frequent [Orphanet] 146 / 7739
24
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
25
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
26
 (HPO:0000171) Microglossia Occasional [Orphanet] 27 / 7739
27
 (HPO:0004050) Absent hand Occasional [Orphanet] 9 / 7739
28
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
29
 (HPO:0000486) Strabismus Very frequent [Orphanet] 576 / 7739
30
 (HPO:0000194) Open mouth Very frequent [Orphanet] 70 / 7739
31
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
32
 (HPO:0009803) Short phalanx of finger 79 / 7739
33
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
34
 (HPO:0001371) Flexion contracture 220 / 7739
35
 (HPO:0002804) Arthrogryposis multiplex congenita 6% [HPO:probinson] 93 / 7739
36
 (HPO:0005684) Distal arthrogryposis 31 / 7739
37
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Occasional [Orphanet] 80 / 7739
38
 (HPO:0000044) Hypogonadotrophic hypogonadism 56 / 7739
39
 (HPO:0000054) Micropenis 257 / 7739
40
 (HPO:0000316) Hypertelorism 25% [HPO:probinson] 644 / 7739
41
 (HPO:0000470) Short neck 345 / 7739
42
 (HPO:0000565) Esotropia 58 / 7739
43
 (HPO:0000568) Microphthalmia 183 / 7739
44
 (HPO:0000577) Exotropia 43 / 7739
45
 (HPO:0000750) Delayed speech and language development 55% [HPO:probinson] 197 / 7739
46
 (HPO:0000932) Abnormality of the posterior cranial fossa 5 / 7739
47
 (HPO:0001159) Syndactyly 140 / 7739
48
 (HPO:0001171) Split hand 72 / 7739
49
 (HPO:0001188) Hand clenching 9 / 7739
50
 (HPO:0001256) Intellectual disability, mild 141 / 7739
51
 (HPO:0001260) Dysarthria 329 / 7739
52
 (HPO:0001270) Motor delay 322 / 7739
53
 (HPO:0001288) Gait disturbance 318 / 7739
54
 (HPO:0001349) Facial diplegia 16 / 7739
55
 (HPO:0001491) Congenital fibrosis of extraocular muscles 9 / 7739
56
 (HPO:0001597) Abnormality of the nail 115 / 7739
57
 (HPO:0001739) Abnormality of the nasopharynx 16 / 7739
58
 (HPO:0001763) Pes planus 176 / 7739
59
 (HPO:0002075) Dysdiadochokinesis 40 / 7739
60
 (HPO:0002312) Clumsiness 28 / 7739
61
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
62
 (HPO:0002370) Poor coordination 15 / 7739
63
 (HPO:0002644) Abnormality of pelvic girdle bone morphology 31 / 7739
64
 (HPO:0002880) Respiratory difficulties 15 / 7739
65
 (HPO:0004408) Abnormality of the sense of smell Occasional [Orphanet] 28 / 7739
66
 (HPO:0005280) Depressed nasal bridge 381 / 7739
67
 (HPO:0005914) Aplasia/Hypoplasia involving the metacarpal bones 8 / 7739
68
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
69
 (HPO:0008734) Decreased testicular size 105 / 7739
70
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
71
 (HPO:0009751) Aplasia of the pectoralis major muscle Frequent [Orphanet] 8 / 7739
72
 (HPO:0009804) Reduced number of teeth Occasional [Orphanet] 137 / 7739
73
 (HPO:0009816) Lower limb undergrowth 6 / 7739
74
 (HPO:0012385) Camptodactyly 113 / 7739
75
 (OMIM) Facial paresis, usually bilateral 1 / 7739
76
 (OMIM) Lower facial muscles may be spared 1 / 7739
77
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
78
 (HPO:0009117) Aplasia/Hypoplasia of the maxilla 18 / 7739
79
 (OMIM) External ear defects 2 / 7739
80
 (OMIM) Abduction palsy, usually bilateral 1 / 7739
81
 (OMIM) Adduction palsy, usually bilateral 1 / 7739
82
 (OMIM) Conjugated horizontal gaze palsy 1 / 7739
83
 (OMIM) Duane retraction syndrome (34%) 1 / 7739
84
 (OMIM) Lacrimal duct defects 1 / 7739
85
 (OMIM) Tongue hypoplasia (77%) 1 / 7739
86
 (OMIM) Asymmetric size of the tongue 1 / 7739
87
 (OMIM) Limited tongue movement 1 / 7739
88
 (OMIM) Tongue paresis, unilateral 1 / 7739
89
 (OMIM) Palatal weakness 1 / 7739
90
 (OMIM) Weak bite 1 / 7739
91
 (OMIM) Absence of jaw rotation during chewing 1 / 7739
92
 (OMIM) Teeth defects (37%) 1 / 7739
93
 (OMIM) Respiratory difficulties in infancy 1 / 7739
94
 (OMIM) Pharyngeal weakness 2 / 7739
95
 (OMIM) Feeding problems in infancy 2 / 7739
96
 (OMIM) Poorly-developed scrotum 1 / 7739
97
 (OMIM) Hip defects 1 / 7739
98
 (HPO:0002814) Abnormality of the lower limb 23 / 7739
99
 (OMIM) Anisomelia 1 / 7739
100
 (HPO:0001155) Abnormality of the hand 54 / 7739
101
 (MedDRA:10072883) Brachydactyly 153 / 7739
102
 (MedDRA:10058668) Clinodactyly 91 / 7739
103
 (HPO:0100257) Ectrodactyly 27 / 7739
104
 (OMIM) Low set thumbs 2 / 7739
105
 (HPO:0001761) Pes cavus 225 / 7739
106
 (HPO:0004684) Talipes valgus 28 / 7739
107
 (OMIM) Nail deformities 1 / 7739
108
 (OMIM) Abducens nerve palsy 2 / 7739
109
 (OMIM) Other cranial nerves may be involved 1 / 7739
110
 (OMIM) Axial imbalance (34%) 1 / 7739
111
 (HPO:0001310) Dysmetria 76 / 7739
112
 (HPO:0001328) Specific learning disability 114 / 7739
113
 (OMIM) MRI shows absence of the facial nerve 1 / 7739
114
 (OMIM) MRI shows brainstem hypoplasia 1 / 7739
115
 (OMIM) MRI shows congenital abnormalities of the posterior fossa 1 / 7739
116
 (OMIM) Loss of sensation in the face (trigeminal nerve region, CN V) (11%) 1 / 7739
117
 (OMIM) Peripheral neuropathy has been reported in rare cases 1 / 7739
118
 (OMIM) Nasal dysarthria 1 / 7739
119
 (HPO:0011442) Abnormality of central motor function Frequent [Orphanet] 76 / 7739
120
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
121
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
122
 (HPO:0002803) Congenital contracture Occasional [Orphanet] 45 / 7739
123
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
124
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
125
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
126
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
127
 (HPO:0001163) Abnormality of the metacarpal bones Occasional [Orphanet] 149 / 7739
128
 (HPO:0000159) Abnormality of the lip Frequent [Orphanet] 33 / 7739
129
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
130
 (HPO:0000377) Abnormality of the pinna 111 / 7739
131
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
132
 (HPO:0003745) Sporadic 131 / 7739
133
 (HPO:0003812) Phenotypic variability 129 / 7739
134
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
135
 (HPO:0009466) Radial deviation of finger 101 / 7739
136
 (HPO:0030084) Clinodactyly 90 / 7739