1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
2
|
(HPO:0000268)
|
Dolichocephaly |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
3
|
(HPO:0000269)
|
Prominent occiput |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
4
|
(HPO:0000340)
|
Sloping forehead |
Frequent [Orphanet]
|
|
|
|
86 / 7739
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
6
|
(HPO:0000444)
|
Convex nasal ridge |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
7
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
8
|
(HPO:0005989)
|
Redundant neck skin |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
10
|
(HPO:0000501)
|
Glaucoma |
Very frequent [Orphanet]
|
|
|
|
180 / 7739
|
11
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
12
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
13
|
(HPO:0000954)
|
Single transverse palmar crease |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
14
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
15
|
(HPO:0001176)
|
Large hands |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
16
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
17
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
18
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
19
|
(HPO:0001622)
|
Premature birth |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
20
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
21
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
22
|
(HPO:0002823)
|
Abnormality of the femur |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
23
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
24
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
25
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
26
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
27
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
28
|
(HPO:0005108)
|
Abnormality of the intervertebral disk |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
29
|
(HPO:0009912)
|
Abnormality of the tragus |
Frequent [Orphanet]
|
|
|
|
12 / 7739
|
30
|
(HPO:0100530)
|
Abnormality of calcium-phosphate metabolism |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
31
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
32
|
(HPO:0000272)
|
Malar flattening |
Frequent [Orphanet]
|
|
|
|
277 / 7739
|
33
|
(HPO:0000072)
|
Hydroureter |
Very frequent [Orphanet]
|
|
|
|
146 / 7739
|
34
|
(HPO:0004599)
|
Absent or minimally ossified vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
35
|
(HPO:0006660)
|
Aplastic clavicles |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
36
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
37
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
38
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
39
|
(HPO:0100759)
|
Clubbing of fingers |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
40
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
41
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
42
|
(HPO:0001167)
|
Abnormality of finger |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
43
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
44
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
45
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
46
|
(HPO:0000079)
|
Abnormality of the urinary system |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
47
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
48
|
(HPO:0012471)
|
Thick vermilion border |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
49
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
50
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
51
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
52
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
53
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
54
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
55
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
56
|
(HPO:0000237)
|
Small anterior fontanelle |
|
|
|
|
10 / 7739
|
57
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
58
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
59
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
60
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
61
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
62
|
(HPO:0000878)
|
11 pairs of ribs |
|
|
|
|
19 / 7739
|
63
|
(HPO:0000890)
|
Long clavicles |
|
|
|
|
13 / 7739
|
64
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
65
|
(HPO:0000946)
|
Hypoplastic ilia |
|
|
|
|
21 / 7739
|
66
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
67
|
(HPO:0000962)
|
Hyperkeratosis |
|
|
|
|
216 / 7739
|
68
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
69
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
70
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
|
|
142 / 7739
|
71
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
72
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
73
|
(HPO:0001562)
|
Oligohydramnios |
|
|
|
|
75 / 7739
|
74
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
75
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
76
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
77
|
(HPO:0001833)
|
Long foot |
|
|
|
|
33 / 7739
|
78
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
79
|
(HPO:0002282)
|
Heterotopia |
|
|
|
|
21 / 7739
|
80
|
(HPO:0002335)
|
Agenesis of cerebellar vermis |
|
|
|
|
25 / 7739
|
81
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
82
|
(HPO:0002980)
|
Femoral bowing |
|
|
|
|
36 / 7739
|
83
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
84
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
85
|
(HPO:0003044)
|
Shoulder flexion contracture |
|
|
|
|
5 / 7739
|
86
|
(HPO:0003051)
|
Enlarged metaphyses |
|
|
|
|
3 / 7739
|
87
|
(HPO:0003097)
|
Short femur |
|
|
|
|
13 / 7739
|
88
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
89
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
90
|
(HPO:0003826)
|
Stillbirth |
|
|
|
|
40 / 7739
|
91
|
(HPO:0003865)
|
Bowed humerus |
|
|
|
|
5 / 7739
|
92
|
(HPO:0004616)
|
Cleft vertebral arch |
|
|
|
|
2 / 7739
|
93
|
(HPO:0005792)
|
Short humerus |
|
|
|
|
34 / 7739
|
94
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
95
|
(HPO:0006400)
|
Absent knee epiphyses |
|
|
|
|
2 / 7739
|
96
|
(HPO:0006579)
|
Prolonged neonatal jaundice |
|
|
|
|
25 / 7739
|
97
|
(HPO:0007333)
|
Hypoplasia of the frontal lobes |
|
|
|
|
5 / 7739
|
98
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
99
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|