|
1
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
|
4
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
6
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
7
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
8
|
(HPO:0003298)
|
Spina bifida occulta |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
9
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
10
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
11
|
(HPO:0010655)
|
Epiphyseal stippling |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
12
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
13
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
14
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
|
|
219 / 7739
|
|
15
|
(HPO:0012368)
|
Flat face |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
16
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
17
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
18
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
19
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
20
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
21
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
22
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
23
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
24
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
25
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
26
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
27
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
28
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
29
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
30
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
31
|
(HPO:0001525)
|
Severe failure to thrive |
|
|
|
|
13 / 7739
|
|
32
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
33
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
34
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
35
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
36
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
37
|
(HPO:0002188)
|
Delayed CNS myelination |
|
|
|
|
16 / 7739
|
|
38
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
39
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
40
|
(HPO:0003417)
|
Coronal cleft vertebrae |
|
|
|
|
14 / 7739
|
|
41
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
42
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
43
|
(HPO:0005841)
|
Calcific stippling of infantile cartilaginous skeleton |
|
|
|
|
2 / 7739
|