|
1
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
2
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
5
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
6
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
7
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
8
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
9
|
(HPO:0000586)
|
Shallow orbits |
|
|
|
|
23 / 7739
|
|
10
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
|
11
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
12
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
|
13
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
14
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
15
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
16
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
17
|
(HPO:0002208)
|
Coarse hair |
|
|
|
|
58 / 7739
|
|
18
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
19
|
(HPO:0002680)
|
J-shaped sella turcica |
|
|
|
|
15 / 7739
|
|
20
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
21
|
(HPO:0002756)
|
Pathologic fracture |
|
|
|
|
30 / 7739
|
|
22
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
23
|
(HPO:0003090)
|
Hypoplasia of the capital femoral epiphysis |
|
|
|
|
15 / 7739
|
|
24
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
25
|
(HPO:0003393)
|
Thenar muscle atrophy |
|
|
|
|
10 / 7739
|
|
26
|
(HPO:0004944)
|
Cerebral aneurysm |
|
|
|
|
12 / 7739
|
|
27
|
(HPO:0006184)
|
Decreased palmar creases |
|
|
|
|
5 / 7739
|
|
28
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
29
|
(HPO:0009110)
|
Diaphragmatic eventration |
|
|
|
|
8 / 7739
|
|
30
|
(OMIM)
|
Birth length below 0.3 percentile |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Birth weight below 0.3 percentile |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Flat facial profile |
|
|
|
|
6 / 7739
|
|
33
|
(HPO:0008619)
|
Bilateral sensorineural hearing impairment |
|
|
|
|
23 / 7739
|
|
34
|
(OMIM)
|
Normal teeth |
|
|
|
|
15 / 7739
|
|
35
|
(OMIM)
|
Popliteal aneurysm |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0005294)
|
Arterial dissection |
|
|
|
|
8 / 7739
|
|
37
|
(OMIM)
|
Small odontoid |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Prominent knees |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
40
|
(OMIM)
|
Hypothenar muscle atrophy |
|
|
|
|
2 / 7739
|
|
41
|
(HPO:0008066)
|
Abnormal blistering of the skin |
|
|
|
|
20 / 7739
|
|
42
|
(HPO:0200037)
|
Skin vesicle |
|
|
|
|
102 / 7739
|
|
43
|
(OMIM)
|
Reduced muscle mass |
|
|
|
|
4 / 7739
|
|
44
|
(OMIM)
|
Cerebral arterial hemorrhage |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Abnormal urinary collagen-derived pyridinium crosslinks (absent Glc-Gal-PYD) |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Decreased serum glucosyltransferase (GGT) activity |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
48
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|