Symptom Information: Sort according to HPO 

1
 (HPO:0000154) Wide mouth 137 / 7739
2
 (HPO:0000286) Epicanthus 371 / 7739
3
 (HPO:0000316) Hypertelorism 644 / 7739
4
 (HPO:0000343) Long philtrum 262 / 7739
5
 (HPO:0000445) Wide nose 190 / 7739
6
 (HPO:0001250) Seizures 1245 / 7739
7
 (HPO:0001252) Muscular hypotonia 990 / 7739
8
 (HPO:0001324) Muscle weakness 859 / 7739
9
 (HPO:0002058) Myopathic facies 26 / 7739
10
 (HPO:0002714) Downturned corners of mouth 98 / 7739
11
 (HPO:0004425) Flat forehead 6 / 7739
12
 (HPO:0006887) Intellectual disability, progressive 68 / 7739
13
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
14
 (HPO:0010055) Broad hallux 56 / 7739
15
 (HPO:0010864) Intellectual disability, severe 120 / 7739
16
 (HPO:0011304) Broad thumb 39 / 7739
17
 (HPO:0012553) Hypoplastic thumbnail 1 / 7739
18
 (HPO:0012555) Absent nail of hallux 1 / 7739
19
 (OMIM) Thick vermilion border of the upper lip 1 / 7739
20
 (OMIM) Proximal implantation of thumb 1 / 7739
21
 (OMIM) Central translucency of distal phalanges of thumbs 1 / 7739
22
 (OMIM) Hypoplasia of terminal phalanges 1 / 7739
23
 (OMIM) Pseudoepiphysis of the thumb 1 / 7739
24
 (OMIM) Broad halluces 12 / 7739
25
 (OMIM) Long great toes 1 / 7739
26
 (OMIM) Hypoplastic thumb nails 1 / 7739
27
 (OMIM) Absent nails of halluces 1 / 7739
28
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
29
 (HPO:0010547) Muscle flaccidity 466 / 7739
30
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
31
 (HPO:0001181) Adducted thumb 31 / 7739
32
 (HPO:0001263) Global developmental delay 853 / 7739
33
 (HPO:0005280) Depressed nasal bridge 381 / 7739
34
 (HPO:0009693) Pseudoepiphysis of the thumb 1 / 7739
35
 (HPO:0009928) Thick nasal alae 21 / 7739