1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
2
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
3
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
4
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
5
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
6
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
7
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
8
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
10
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
11
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
12
|
(HPO:0001504)
|
Metacarpal osteolysis |
|
|
|
|
3 / 7739
|
13
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
14
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
15
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
16
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
17
|
(HPO:0006449)
|
Distal radial epiphyseal osteolysis |
|
|
|
|
1 / 7739
|
18
|
(HPO:0009839)
|
Osteolytic defects of the distal phalanges of the hand |
|
|
|
|
6 / 7739
|
19
|
(HPO:0009847)
|
Osteolytic defects of the middle phalanges of the hand |
|
|
|
|
1 / 7739
|
20
|
(HPO:0009855)
|
Osteolytic defects of the proximal phalanges of the hand |
|
|
|
|
1 / 7739
|
21
|
(OMIM)
|
Distal ulnar epiphyseal osteolysis |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Loose volar skin of hands |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Absent distal and middle phalanges |
|
|
|
|
2 / 7739
|
24
|
(OMIM)
|
Normal carpals |
|
|
|
|
2 / 7739
|
25
|
(OMIM)
|
Severe bone resorption of feet |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Normal tarsal |
|
|
|
|
3 / 7739
|
27
|
(OMIM)
|
Loose volor skin of hands |
|
|
|
|
1 / 7739
|
28
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
30
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|