|
1
|
(HPO:0001182)
|
Tapered finger |
Very frequent [Orphanet]
|
|
|
|
93 / 7739
|
|
2
|
(HPO:0002645)
|
Wormian bones |
Very frequent [Orphanet]
|
|
|
|
65 / 7739
|
|
3
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
4
|
(HPO:0002815)
|
Abnormality of the knee |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
5
|
(HPO:0003028)
|
Abnormality of the ankles |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
6
|
(HPO:0003103)
|
Abnormal cortical bone morphology |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
8
|
(HPO:0003307)
|
Hyperlordosis |
Very frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
9
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
10
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
11
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
12
|
(HPO:0001385)
|
Hip dysplasia |
Very frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
13
|
(HPO:0001357)
|
Plagiocephaly |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
15
|
(HPO:0000224)
|
Decreased taste sensation |
|
|
|
|
6 / 7739
|
|
16
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
17
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
|
18
|
(HPO:0000970)
|
Anhidrosis |
|
|
|
|
24 / 7739
|
|
19
|
(HPO:0001069)
|
Episodic hyperhidrosis |
|
|
|
|
4 / 7739
|
|
20
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
21
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
22
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
23
|
(HPO:0001818)
|
Paronychia |
|
|
|
|
6 / 7739
|
|
24
|
(HPO:0001842)
|
Foot acroosteolysis |
|
|
|
|
4 / 7739
|
|
25
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
26
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
27
|
(HPO:0002661)
|
Painless fractures due to injury |
|
|
|
|
5 / 7739
|
|
28
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
|
|
30 / 7739
|
|
29
|
(HPO:0003448)
|
Decreased sensory nerve conduction velocity |
|
|
|
|
9 / 7739
|
|
30
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
31
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
32
|
(HPO:0006121)
|
Acral ulceration leading to autoamputation of digits |
|
|
|
|
3 / 7739
|
|
33
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
34
|
(HPO:0009771)
|
Osteolytic defects of the phalanges of the hand |
|
|
|
|
17 / 7739
|
|
35
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|