|
1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0100578)
|
Lipoatrophy |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
3
|
(HPO:0002216)
|
Premature graying of hair |
Very frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
4
|
(HPO:0000444)
|
Convex nasal ridge |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
5
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
6
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
7
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
8
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
9
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
10
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
11
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
12
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
13
|
(HPO:0000670)
|
Carious teeth |
Very frequent [Orphanet]
|
|
|
|
145 / 7739
|
|
14
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
15
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
16
|
(HPO:0000508)
|
Ptosis |
Very frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
17
|
(HPO:0009721)
|
Shagreen patch |
Very frequent [Orphanet]
|
|
|
|
11 / 7739
|
|
18
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
19
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
20
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
21
|
(HPO:0002162)
|
Low posterior hairline |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
22
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
23
|
(HPO:0000689)
|
Dental malocclusion |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
24
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
25
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
26
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
|
27
|
(HPO:0001090)
|
Large eyes |
|
|
|
|
20 / 7739
|
|
28
|
(HPO:0001322)
|
Brain very small |
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
30
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Very frequent [Orphanet]
|
|
|
|
176 / 7739
|
|
31
|
(HPO:0004349)
|
Reduced bone mineral density |
Very frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
32
|
(HPO:0004404)
|
Abnormality of the nipple |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
33
|
(HPO:0007605)
|
Excessive wrinkling of palmar skin |
|
|
|
|
2 / 7739
|
|
34
|
(HPO:0200115)
|
Scalp hair loss |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Large |
|
|
|
|
2 / 7739
|
|
36
|
(OMIM)
|
Narrow |
|
|
|
|
3 / 7739
|
|
37
|
(OMIM)
|
Small |
|
|
|
|
3 / 7739
|
|
38
|
(OMIM)
|
Receding |
|
|
|
|
2 / 7739
|
|
39
|
(OMIM)
|
Dwarfism, birth weight normal |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Premature senility |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
42
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
43
|
(HPO:0001357)
|
Plagiocephaly |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
44
|
(HPO:0000035)
|
Abnormality of the testis |
Very frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
45
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
46
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
47
|
(HPO:0002293)
|
Alopecia of scalp |
|
|
|
|
9 / 7739
|