1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
2
|
(HPO:0000275)
|
Narrow face |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
3
|
(HPO:0000444)
|
Convex nasal ridge |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
4
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
5
|
(HPO:0000501)
|
Glaucoma |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
6
|
(HPO:0000682)
|
Abnormality of dental enamel |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
7
|
(HPO:0001363)
|
Craniosynostosis |
Very frequent [Orphanet]
|
|
|
|
132 / 7739
|
8
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
9
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
10
|
(HPO:0001852)
|
Sandal gap |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
11
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
12
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
13
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
14
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
15
|
(HPO:0009804)
|
Reduced number of teeth |
Frequent [Orphanet]
|
|
|
|
137 / 7739
|
16
|
(HPO:0009906)
|
Aplasia/Hypoplasia of the earlobes |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
17
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
18
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
19
|
(HPO:0004326)
|
Cachexia |
Very frequent [Orphanet]
|
|
|
|
71 / 7739
|
20
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
21
|
(HPO:0011849)
|
Abnormal bone ossification |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
22
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
23
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
25
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
26
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
27
|
(HPO:0000057)
|
Clitoromegaly |
|
|
|
|
30 / 7739
|
28
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
29
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
30
|
(HPO:0000237)
|
Small anterior fontanelle |
|
|
|
|
10 / 7739
|
31
|
(HPO:0000324)
|
Facial asymmetry |
|
|
|
|
57 / 7739
|
32
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
33
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
34
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
35
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
36
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
37
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
38
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
39
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
40
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
41
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
42
|
(HPO:0000878)
|
11 pairs of ribs |
|
|
|
|
19 / 7739
|
43
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
44
|
(HPO:0001090)
|
Large eyes |
|
|
|
|
20 / 7739
|
45
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
46
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
47
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
48
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
49
|
(HPO:0001592)
|
Selective tooth agenesis |
|
|
|
|
16 / 7739
|
50
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
51
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
52
|
(HPO:0001883)
|
Talipes |
|
|
|
|
12 / 7739
|
53
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
54
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
55
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
56
|
(HPO:0003083)
|
Dislocated radial head |
|
|
|
|
35 / 7739
|
57
|
(HPO:0003508)
|
Proportionate short stature |
|
|
|
|
12 / 7739
|
58
|
(HPO:0006143)
|
Abnormal finger flexion creases |
|
|
|
|
4 / 7739
|
59
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
60
|
(HPO:0006434)
|
Hypoplasia of proximal radius |
|
|
|
|
3 / 7739
|
61
|
(HPO:0006442)
|
Hypoplasia of proximal fibula |
|
|
|
|
2 / 7739
|
62
|
(HPO:0007048)
|
Large basal ganglia |
|
|
|
|
2 / 7739
|
63
|
(HPO:0010230)
|
Cone-shaped epiphyses of the phalanges of the hand |
|
|
|
|
34 / 7739
|
64
|
(HPO:0010583)
|
Ivory epiphyses |
|
|
|
|
4 / 7739
|