|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0100578)
|
Lipoatrophy |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
4
|
(HPO:0008734)
|
Decreased testicular size |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
5
|
(HPO:0000444)
|
Convex nasal ridge |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
6
|
(HPO:0003045)
|
Abnormality of the patella |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
7
|
(HPO:0005352)
|
Severe T-cell immunodeficiency |
Very frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
8
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
9
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
|
10
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
11
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
12
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
13
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Occasional [Orphanet]
|
|
|
|
185 / 7739
|
|
14
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
15
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
16
|
(HPO:0000340)
|
Sloping forehead |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
17
|
(HPO:0000670)
|
Carious teeth |
Occasional [Orphanet]
|
|
|
|
145 / 7739
|
|
18
|
(HPO:0000964)
|
Eczema |
Very frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
19
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
20
|
(HPO:0000426)
|
Prominent nasal bridge |
Very frequent [Orphanet]
|
|
|
|
121 / 7739
|
|
21
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
|
22
|
(HPO:0001363)
|
Craniosynostosis |
Frequent [Orphanet]
|
|
|
|
132 / 7739
|
|
23
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
24
|
(HPO:0009465)
|
Ulnar deviation of finger |
Occasional [Orphanet]
|
|
|
|
48 / 7739
|
|
25
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
26
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
27
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
28
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
29
|
(HPO:0003065)
|
Patellar hypoplasia |
|
|
|
|
8 / 7739
|
|
30
|
(HPO:0005432)
|
Transient hypogammaglobulinemia of infancy |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Occasional [Orphanet]
|
|
|
|
117 / 7739
|
|
32
|
(OMIM)
|
Defective chemotaxis |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
34
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
35
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
36
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
|
37
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
38
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
39
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
40
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|