1
|
(HPO:0000268)
|
Dolichocephaly |
Frequent [Orphanet]
|
|
|
|
144 / 7739
|
2
|
(HPO:0000307)
|
Pointed chin |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
3
|
(HPO:0000325)
|
Triangular face |
Very frequent [Orphanet]
|
|
|
|
91 / 7739
|
4
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
5
|
(HPO:0000343)
|
Long philtrum |
Frequent [Orphanet]
|
|
|
|
262 / 7739
|
6
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
7
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
8
|
(HPO:0000574)
|
Thick eyebrow |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
9
|
(HPO:0000682)
|
Abnormality of dental enamel |
Frequent [Orphanet]
|
|
|
|
102 / 7739
|
10
|
(HPO:0000684)
|
Delayed eruption of teeth |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
11
|
(HPO:0000772)
|
Abnormality of the ribs |
Frequent [Orphanet]
|
|
|
|
146 / 7739
|
12
|
(HPO:0000912)
|
Sprengel anomaly |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
13
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
14
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
15
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
16
|
(HPO:0001838)
|
Rocker bottom foot |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
17
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
18
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
19
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
20
|
(HPO:0002808)
|
Kyphosis |
Occasional [Orphanet]
|
|
|
|
289 / 7739
|
21
|
(HPO:0002983)
|
Micromelia |
Frequent [Orphanet]
|
|
|
|
130 / 7739
|
22
|
(HPO:0002997)
|
Abnormality of the ulna |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
23
|
(HPO:0003100)
|
Slender long bone |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
24
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
25
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
26
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
27
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
28
|
(HPO:0009811)
|
Abnormality of the elbow |
Frequent [Orphanet]
|
|
|
|
30 / 7739
|
29
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
30
|
(HPO:0005257)
|
Thoracic hypoplasia |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
31
|
(HPO:0100625)
|
Enlarged thorax |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
32
|
(HPO:0100659)
|
Abnormality of the cerebral vasculature |
Occasional [Orphanet]
|
|
|
|
25 / 7739
|
33
|
(HPO:0000789)
|
Infertility |
Occasional [Orphanet]
|
|
|
|
74 / 7739
|
34
|
(HPO:0000411)
|
Protruding ear |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
35
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
36
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
37
|
(HPO:0000047)
|
Hypospadias |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
38
|
(HPO:0000159)
|
Abnormality of the lip |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
39
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
40
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
42
|
(HPO:0000179)
|
Thick lower lip vermilion |
|
|
|
|
72 / 7739
|
43
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
44
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
45
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
46
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
47
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
48
|
(HPO:0002643)
|
Neonatal respiratory distress |
|
|
|
|
22 / 7739
|
49
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
50
|
(HPO:0003298)
|
Spina bifida occulta |
|
|
|
|
67 / 7739
|
51
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
52
|
(HPO:0004570)
|
Increased vertebral height |
|
|
|
|
6 / 7739
|
53
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
54
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|
55
|
(HPO:0008839)
|
Hypoplastic pelvis |
|
|
|
|
18 / 7739
|
56
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
57
|
(HPO:0009237)
|
Short 5th finger |
|
|
|
|
16 / 7739
|
58
|
(HPO:0010306)
|
Short thorax |
|
|
|
|
10 / 7739
|