Symptom Information: Sort according to HPO 

1
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
2
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
3
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
4
 (HPO:0001324) Muscle weakness 859 / 7739
5
 (HPO:0000369) Low-set ears 372 / 7739
6
 (HPO:0000581) Blepharophimosis Frequent [Orphanet] 197 / 7739
7
 (HPO:0000385) Small earlobe 9 / 7739
8
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
9
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
10
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
11
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
12
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
13
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
14
 (HPO:0002652) Skeletal dysplasia Very frequent [Orphanet] 113 / 7739
15
 (HPO:0004331) Decreased skull ossification Very frequent [Orphanet] 31 / 7739
16
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
17
 (HPO:0000463) Anteverted nares Very frequent [Orphanet] 305 / 7739
18
 (HPO:0002561) Absent nipple 12 / 7739
19
 (HPO:0006709) Aplasia/Hypoplasia of the nipples Occasional [Orphanet] 28 / 7739
20
 (HPO:0001629) Ventricular septal defect Occasional [Orphanet] 316 / 7739
21
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
22
 (HPO:0006660) Aplastic clavicles Frequent [Orphanet] 70 / 7739
23
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
24
 (HPO:0004279) Short palm Very frequent [Orphanet] 323 / 7739
25
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
26
 (HPO:0009601) Aplasia/Hypoplasia of the thumb Very frequent [Orphanet] 80 / 7739
27
 (HPO:0009777) Absent thumb 31 / 7739
28
 (HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
29
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
30
 (HPO:0000774) Narrow chest Very frequent [Orphanet] 167 / 7739
31
 (HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
32
 (HPO:0000647) Sclerocornea Occasional [Orphanet] 25 / 7739
33
 (HPO:0009738) Abnormality of the antihelix Very frequent [Orphanet] 37 / 7739
34
 (HPO:0009776) Adactyly Very frequent [Orphanet] 11 / 7739
35
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
36
 (HPO:0000347) Micrognathia 426 / 7739
37
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
38
 (HPO:0000653) Sparse eyelashes 58 / 7739
39
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
40
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
41
 (HPO:0002827) Hip dislocation 94 / 7739
42
 (HPO:0001636) Tetralogy of Fallot Occasional [Orphanet] 104 / 7739
43
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
44
 (HPO:0000162) Glossoptosis Very frequent [Orphanet] 26 / 7739
45
 (HPO:0002092) Pulmonary hypertension Occasional [Orphanet] 109 / 7739
46
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
47
 (HPO:0001302) Pachygyria 60 / 7739
48
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
49
 (HPO:0000488) Retinopathy Occasional [Orphanet] 75 / 7739
50
 (HPO:0001360) Holoprosencephaly 29 / 7739
51
 (HPO:0002139) Arrhinencephaly 13 / 7739
52
 (HPO:0011305) Partial absence of toe Very frequent [Orphanet] 18 / 7739
53
 (HPO:0000954) Single transverse palmar crease Very frequent [Orphanet] 162 / 7739
54
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
55
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
56
 (HPO:0002209) Sparse scalp hair 59 / 7739
57
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
58
 (HPO:0000286) Epicanthus Occasional [Orphanet] 371 / 7739
59
 (HPO:0000322) Short philtrum Very frequent [Orphanet] 130 / 7739
60
 (HPO:0008053) Aplasia/Hypoplasia of the iris Occasional [Orphanet] 38 / 7739
61
 (HPO:0000766) Abnormality of the sternum Very frequent [Orphanet] 31 / 7739
62
 (HPO:0000958) Dry skin Occasional [Orphanet] 152 / 7739
63
 (HPO:0000028) Cryptorchidism 347 / 7739
64
 (HPO:0000047) Hypospadias 250 / 7739
65
 (HPO:0000188) Short upper lip 8 / 7739
66
 (HPO:0000216) Broad secondary alveolar ridge 3 / 7739
67
 (HPO:0000268) Dolichocephaly 144 / 7739
68
 (HPO:0000365) Hearing impairment 539 / 7739
69
 (HPO:0000464) Abnormality of the neck 31 / 7739
70
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
71
 (HPO:0000782) Abnormality of the scapula 3 / 7739
72
 (HPO:0000894) Short clavicles 30 / 7739
73
 (HPO:0001182) Tapered finger 93 / 7739
74
 (HPO:0001321) Cerebellar hypoplasia rare [HPO:skoehler] 114 / 7739
75
 (HPO:0001525) Severe failure to thrive 13 / 7739
76
 (HPO:0001561) Polyhydramnios 191 / 7739
77
 (HPO:0001622) Premature birth 100 / 7739
78
 (HPO:0001638) Cardiomyopathy Occasional [Orphanet] 192 / 7739
79
 (HPO:0001770) Toe syndactyly 149 / 7739
80
 (HPO:0001789) Hydrops fetalis 63 / 7739
81
 (HPO:0001871) Abnormality of blood and blood-forming tissues 37 / 7739
82
 (HPO:0002021) Pyloric stenosis 51 / 7739
83
 (HPO:0002692) Hypoplastic facial bones 5 / 7739
84
 (HPO:0006323) Premature loss of primary teeth 18 / 7739
85
 (HPO:0006628) Absent sternal ossification 6 / 7739
86
 (HPO:0008362) Aplasia/Hypoplasia of the hallux 4 / 7739
87
 (HPO:0008386) Aplasia/Hypoplasia of the nails 4 / 7739
88
 (HPO:0009835) Aplasia/Hypoplasia of the distal phalanges of the hand 9 / 7739
89
 (HPO:0009843) Aplasia/Hypoplasia of the middle phalanges of the hand 13 / 7739
90
 (HPO:0009906) Aplasia/Hypoplasia of the earlobes Very frequent [Orphanet] 41 / 7739
91
 (HPO:0011309) Tapered toe 2 / 7739
92
 (HPO:0011344) Severe global developmental delay 46 / 7739
93
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
94
 (OMIM) Enlarged fontanels 1 / 7739
95
 (HPO:0000377) Abnormality of the pinna 111 / 7739
96
 (OMIM) Hypoplastic ear lobes 2 / 7739
97
 (OMIM) Papillo-macular atrophic chorioretinopathy (1 report) 1 / 7739
98
 (OMIM) Labiogingival retraction 1 / 7739
99
 (OMIM) Narrow arched palate 2 / 7739
100
 (OMIM) Cystic dental follicles 1 / 7739
101
 (OMIM) Loose nuchal skin 1 / 7739
102
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
103
 (OMIM) Abnormal scapula 1 / 7739
104
 (OMIM) Weak sucking 1 / 7739
105
 (OMIM) Widened suture 4 / 7739
106
 (OMIM) Flattened acetabula 1 / 7739
107
 (OMIM) Iliac hypoplasia 1 / 7739
108
 (OMIM) Short tapering fingers 2 / 7739
109
 (OMIM) Aplastic/hypoplastic first metacarpal 1 / 7739
110
 (HPO:0001159) Syndactyly 140 / 7739
111
 (OMIM) Short, tapering toes 1 / 7739
112
 (OMIM) Aplastic/hypoplastic first metatarsal 1 / 7739
113
 (OMIM) Sparse eyebrows and eyelashes 4 / 7739
114
 (OMIM) Severe developmental delay in survivors 1 / 7739
115
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
116
 (HPO:0010547) Muscle flaccidity 466 / 7739
117
 (OMIM) Frontal lobe atrophy 2 / 7739
118
 (OMIM) Neuronal loss, diffuse 1 / 7739
119
 (OMIM) Vacuolated neurons 1 / 7739
120
 (OMIM) Vacuolated macrophages 1 / 7739
121
 (OMIM) Enlarged cytoplasmic vacuoles in bone, muscle, and brain tissue 1 / 7739
122
 (HPO:0000481) Abnormality of the cornea Occasional [Orphanet] 124 / 7739
123
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
124
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
125
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Very frequent [Orphanet] 69 / 7739
126
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Occasional [Orphanet] 67 / 7739
127
 (HPO:0001800) Hypoplastic toenails Very frequent [Orphanet] 74 / 7739
128
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
129
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
130
 (HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739
131
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
132
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
133
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
134
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
135
 (HPO:0001804) Hypoplastic fingernail Very frequent [Orphanet] 62 / 7739
136
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
137
 (HPO:0001831) Short toe 52 / 7739