1
|
(HPO:0000130)
|
Abnormality of the uterus |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
2
|
(HPO:0001180)
|
Hand oligodactyly |
hallmark [HPO]
|
|
16826533
|
IBIS
|
17 / 7739
|
3
|
(HPO:0009380)
|
Aplasia of the fingers |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
4
|
(HPO:0002435)
|
Meningocele |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
5
|
(HPO:0001762)
|
Talipes equinovarus |
Occasional [Orphanet]
|
|
|
|
309 / 7739
|
6
|
(HPO:0001789)
|
Hydrops fetalis |
Occasional [Orphanet]
|
|
|
|
63 / 7739
|
7
|
(HPO:0000411)
|
Protruding ear |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
8
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
9
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
10
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
11
|
(HPO:0003982)
|
Absent ulna |
hallmark [HPO]
|
|
16826533
|
IBIS
|
7 / 7739
|
12
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
13
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
14
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
15
|
(HPO:0003063)
|
Abnormality of the humerus |
Occasional [Orphanet]
|
|
|
|
36 / 7739
|
16
|
(HPO:0000028)
|
Cryptorchidism |
2/3 [HPO]
|
|
3066902
|
IBIS
|
347 / 7739
|
17
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
18
|
(HPO:0002984)
|
Hypoplasia of the radius |
common [HPO]
|
|
16826533
|
IBIS
|
44 / 7739
|
19
|
(HPO:0001362)
|
Calvarial skull defect |
Occasional [Orphanet]
|
|
|
|
22 / 7739
|
20
|
(HPO:0000470)
|
Short neck |
Frequent [Orphanet]
|
|
|
|
345 / 7739
|
21
|
(HPO:0010760)
|
Absent toe |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
22
|
(HPO:0002575)
|
Tracheoesophageal fistula |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
23
|
(HPO:0003196)
|
Short nose |
Occasional [Orphanet]
|
|
|
|
264 / 7739
|
24
|
(HPO:0002990)
|
Fibular aplasia |
hallmark [HPO]
|
|
16826533
|
IBIS
|
16 / 7739
|
25
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
26
|
(HPO:0006487)
|
Bowing of the long bones |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
27
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
28
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
29
|
(HPO:0000054)
|
Micropenis |
Occasional [Orphanet]
|
|
|
|
257 / 7739
|
30
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
31
|
(HPO:0000046)
|
Scrotal hypoplasia |
1/3 [HPO]
|
|
3066902
|
IBIS
|
54 / 7739
|
32
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
33
|
(HPO:0000151)
|
Aplasia of the uterus |
rare [HPO]
|
|
|
|
12 / 7739
|
34
|
(HPO:0000276)
|
Long face |
2/3 [HPO]
|
|
3066902
|
IBIS
|
109 / 7739
|
35
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
36
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
37
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
38
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
39
|
(HPO:0000475)
|
Broad neck |
3/5 [HPO]
|
|
3066902
|
IBIS
|
12 / 7739
|
40
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
41
|
(HPO:0000884)
|
Prominent sternum |
2/3 [HPO]
|
|
3066902
|
IBIS
|
11 / 7739
|
42
|
(HPO:0000885)
|
Broad ribs |
3/5 [HPO]
|
|
3066902
|
IBIS
|
21 / 7739
|
43
|
(HPO:0000916)
|
Broad clavicles |
3/5 [HPO]
|
|
3066902
|
IBIS
|
6 / 7739
|
44
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
45
|
(HPO:0001552)
|
Barrel-shaped chest |
2/3 [HPO]
|
|
3066902
|
IBIS
|
31 / 7739
|
46
|
(HPO:0001773)
|
Short foot |
hallmark [HPO]
|
|
16826533
|
IBIS
|
86 / 7739
|
47
|
(HPO:0001798)
|
Anonychia |
|
|
|
|
28 / 7739
|
48
|
(HPO:0001849)
|
Foot oligodactyly |
hallmark [HPO]
|
|
16826533
|
IBIS
|
9 / 7739
|
49
|
(HPO:0001964)
|
Aplasia/Hypoplasia of metatarsal bones |
common [HPO]
|
|
16826533
|
IBIS
|
5 / 7739
|
50
|
(HPO:0002436)
|
Occipital meningocele |
rare [HPO]
|
|
|
|
4 / 7739
|
51
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
52
|
(HPO:0002827)
|
Hip dislocation |
occasional [HPO]
|
|
16826533
|
IBIS
|
94 / 7739
|
53
|
(HPO:0002937)
|
Hemivertebrae |
|
|
|
|
41 / 7739
|
54
|
(HPO:0002980)
|
Femoral bowing |
typical [HPO]
|
|
16826533
|
IBIS
|
36 / 7739
|
55
|
(HPO:0002986)
|
Radial bowing |
common [HPO]
|
|
16826533
|
IBIS
|
27 / 7739
|
56
|
(HPO:0002987)
|
Elbow flexion contracture |
common [HPO]
|
|
16826533
|
IBIS
|
64 / 7739
|
57
|
(HPO:0003041)
|
Humeroradial synostosis |
common [HPO]
|
|
16826533
|
IBIS
|
19 / 7739
|
58
|
(HPO:0003070)
|
Elbow ankylosis |
common [HPO]
|
|
16826533
|
IBIS
|
8 / 7739
|
59
|
(HPO:0003252)
|
Anteriorly displaced genitalia |
4/5 [HPO]
|
|
3066902
|
IBIS
|
1 / 7739
|
60
|
(HPO:0003498)
|
Disproportionate short stature |
common [HPO]
|
|
|
|
28 / 7739
|
61
|
(HPO:0004231)
|
Carpal bone aplasia |
|
|
|
|
5 / 7739
|
62
|
(HPO:0005474)
|
Decreased calvarial ossification |
|
|
|
|
8 / 7739
|
63
|
(HPO:0005613)
|
Aplasia/hypoplasia of the femur |
hallmark [HPO]
|
|
16826533
|
IBIS
|
5 / 7739
|
64
|
(HPO:0005914)
|
Aplasia/Hypoplasia involving the metacarpal bones |
common [HPO]
|
|
16826533
|
IBIS
|
8 / 7739
|
65
|
(HPO:0006502)
|
Aplasia/Hypoplasia involving the carpal bones |
common [HPO]
|
|
16826533
|
IBIS
|
1 / 7739
|
66
|
(HPO:0006585)
|
Congenital pseudoarthrosis of the clavicle |
|
|
|
|
4 / 7739
|
67
|
(HPO:0008363)
|
Aplasia/Hypoplasia of the tarsal bones |
common [HPO]
|
|
16826533
|
IBIS
|
2 / 7739
|
68
|
(HPO:0008817)
|
Aplastic pubic bones |
|
|
|
|
1 / 7739
|
69
|
(HPO:0009104)
|
Aplasia/Hypoplasia of the pubic bone |
typical [HPO]
|
|
16826533
|
IBIS
|
2 / 7739
|
70
|
(HPO:0009767)
|
Aplasia/Hypoplasia of the phalanges of the hand |
common [HPO]
|
|
16826533
|
IBIS
|
5 / 7739
|
71
|
(HPO:0009829)
|
Phocomelia |
common [HPO]
|
|
16826533
|
IBIS
|
20 / 7739
|
72
|
(HPO:0010173)
|
Aplasia/Hypoplasia of the phalanges of the toes |
common [HPO]
|
|
16826533
|
IBIS
|
2 / 7739
|
73
|
(HPO:0010769)
|
Pilonidal sinus |
|
|
|
|
35 / 7739
|
74
|
(OMIM)
|
Asymmetric face |
|
|
|
|
5 / 7739
|
75
|
(Orphanet:13140)
|
Long/large ear |
|
|
|
|
4 / 7739
|
76
|
(OMIM)
|
Hypoplastic iliac bone |
|
|
|
|
2 / 7739
|
77
|
(HPO:0009821)
|
Forearm undergrowth |
|
|
|
|
8 / 7739
|
78
|
(OMIM)
|
Short bowed radii |
|
|
|
|
5 / 7739
|
79
|
(OMIM)
|
Aplastic ulnae |
|
|
|
|
1 / 7739
|
80
|
(OMIM)
|
Bowed, short femora |
|
|
|
|
4 / 7739
|
81
|
(OMIM)
|
Aplastic fibulae |
|
|
|
|
1 / 7739
|
82
|
(OMIM)
|
Aplastic tibiae |
|
|
|
|
1 / 7739
|
83
|
(OMIM)
|
Slender tibiae |
|
|
|
|
1 / 7739
|
84
|
(OMIM)
|
Mobile wrist |
|
|
|
|
1 / 7739
|
85
|
(HPO:0100257)
|
Ectrodactyly |
|
|
|
|
27 / 7739
|
86
|
(HPO:0012165)
|
Oligodactyly |
|
|
|
|
18 / 7739
|
87
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
88
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
89
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
90
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
91
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
92
|
(HPO:0001171)
|
Split hand |
frequent [HPO]
|
|
|
|
72 / 7739
|
93
|
(HPO:0400004)
|
Long ear |
|
|
|
|
94 / 7739
|