|
1
|
(HPO:0001874)
|
Abnormality of neutrophils |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
2
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
3
|
(HPO:0000664)
|
Synophrys |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
4
|
(HPO:0004599)
|
Absent or minimally ossified vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Very frequent [Orphanet]
|
|
|
|
110 / 7739
|
|
6
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
|
7
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
8
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
9
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
10
|
(HPO:0004097)
|
Deviation of finger |
|
|
|
|
13 / 7739
|
|
11
|
(HPO:0009465)
|
Ulnar deviation of finger |
Very frequent [Orphanet]
|
|
|
|
48 / 7739
|
|
12
|
(HPO:0000194)
|
Open mouth |
Very frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
13
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
14
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
15
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
16
|
(HPO:0002423)
|
Long-tract signs |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
18
|
(HPO:0002720)
|
IgA deficiency |
|
|
|
|
33 / 7739
|
|
19
|
(HPO:0003320)
|
C1-C2 subluxation |
|
|
|
|
5 / 7739
|
|
20
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
21
|
(HPO:0006070)
|
Metacarpophalangeal joint contracture |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
Peripheral osteoporosis |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Fracture tendency |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Posterior spinal arch fusion defect |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Carp mouth |
|
|
|
|
2 / 7739
|
|
26
|
(OMIM)
|
Giant cyst of lung |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
28
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
30
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
31
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
32
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
33
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
34
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
35
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|