|
1
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
4
|
(HPO:0006482)
|
Abnormality of dental morphology |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
5
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
6
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
8
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
9
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0000072)
|
Hydroureter |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
11
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
12
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
13
|
(HPO:0005242)
|
Extrahepatic biliary duct atresia |
Occasional [Orphanet]
|
|
|
|
9 / 7739
|
|
14
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
15
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
16
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
|
|
|
|
264 / 7739
|
|
17
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
18
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
19
|
(HPO:0001629)
|
Ventricular septal defect |
Occasional [Orphanet]
|
|
|
|
316 / 7739
|
|
20
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
21
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
22
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
23
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
24
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
25
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
26
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
27
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
28
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
29
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
30
|
(HPO:0001216)
|
Delayed ossification of carpal bones |
|
|
|
|
30 / 7739
|
|
31
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
32
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
33
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
34
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
35
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
36
|
(HPO:0003177)
|
Squared iliac bones |
|
|
|
|
7 / 7739
|
|
37
|
(HPO:0003417)
|
Coronal cleft vertebrae |
|
|
|
|
14 / 7739
|
|
38
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
|
39
|
(OMIM)
|
Length less than 5th percentile |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Overfolded, rumpled ears |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Median nasal groove |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Abnormal cusp morphology |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Flat, irregular acetabular margins |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
45
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
46
|
(HPO:0011039)
|
Abnormality of the helix |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
47
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
48
|
(HPO:0001600)
|
Abnormality of the larynx |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
|
49
|
(HPO:0008544)
|
Abnormally folded helix |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
50
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
51
|
(HPO:0000366)
|
Abnormality of the nose |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
52
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
53
|
(HPO:0000028)
|
Cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
347 / 7739
|
|
54
|
(HPO:0000143)
|
Rectovaginal fistula |
rare [HPO:skoehler]
|
|
|
|
18 / 7739
|
|
55
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
56
|
(HPO:0001539)
|
Omphalocele |
rare [HPO:skoehler]
|
|
|
|
102 / 7739
|
|
57
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
58
|
(HPO:0001604)
|
Vocal cord paresis |
|
|
|
|
8 / 7739
|
|
59
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
60
|
(HPO:0002023)
|
Anal atresia |
rare [HPO:skoehler]
|
|
|
|
135 / 7739
|
|
61
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
62
|
(HPO:0002682)
|
Broad skull |
|
|
|
|
5 / 7739
|
|
63
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
64
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
|
|
|
|
34 / 7739
|
|
65
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
66
|
(HPO:0006695)
|
Atrioventricular canal defect |
|
|
|
|
27 / 7739
|
|
67
|
(HPO:0009623)
|
Proximal placement of thumb |
rare [HPO:skoehler]
|
|
|
|
50 / 7739
|
|
68
|
(HPO:0100255)
|
Metaphyseal dysplasia |
|
|
|
|
26 / 7739
|