1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
3
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
4
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
5
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
6
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
8
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
9
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
10
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
11
|
(HPO:0001525)
|
Severe failure to thrive |
|
|
|
|
13 / 7739
|
12
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
13
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
14
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
15
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
16
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
17
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
18
|
(HPO:0003417)
|
Coronal cleft vertebrae |
|
|
|
|
14 / 7739
|
19
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
20
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
21
|
(HPO:0005841)
|
Calcific stippling of infantile cartilaginous skeleton |
|
|
|
|
2 / 7739
|
22
|
(HPO:0008064)
|
Ichthyosis |
|
|
|
|
108 / 7739
|
23
|
(HPO:0008905)
|
Rhizomelia |
|
|
|
|
85 / 7739
|
24
|
(HPO:0012368)
|
Flat face |
|
|
|
|
106 / 7739
|
25
|
(OMIM)
|
Disappearance of stippling in first year of life |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Epiphyseal calcification |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Severe delay in myelination |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Plasmalogen deficiency |
|
|
|
|
1 / 7739
|
29
|
(OMIM)
|
Acyl-CoA:dihydroxyacetonephosphate acyltransferase deficiency |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Elevated plasma phytanic acid |
|
|
|
|
1 / 7739
|
31
|
(OMIM)
|
Unprocessed 3-oxoacyl CoA thiolase |
|
|
|
|
1 / 7739
|