|
1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
rare [HPO:skoehler]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
rare [HPO:skoehler]
|
|
|
|
34 / 7739
|
|
4
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
|
5
|
(HPO:0000962)
|
Hyperkeratosis |
|
|
|
|
216 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
8
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
9
|
(HPO:0002099)
|
Asthma |
rare [HPO:skoehler]
|
|
|
|
62 / 7739
|
|
10
|
(HPO:0002123)
|
Generalized myoclonic seizures |
rare [HPO:skoehler]
|
|
|
|
62 / 7739
|
|
11
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
12
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
13
|
(HPO:0008064)
|
Ichthyosis |
|
|
|
|
108 / 7739
|
|
14
|
(HPO:0010783)
|
Erythema |
|
|
|
|
138 / 7739
|
|
15
|
(HPO:0011003)
|
Severe Myopia |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
|
16
|
(HPO:0012444)
|
Brain atrophy |
rare [HPO:skoehler]
|
|
|
|
24 / 7739
|
|
17
|
(HPO:0012448)
|
Delayed myelination |
rare [HPO:skoehler]
|
|
|
|
51 / 7739
|
|
18
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|
|
19
|
(OMIM)
|
Collodion membrane at birth |
|
|
|
|
10 / 7739
|
|
20
|
(OMIM)
|
Developmental delay, profound |
|
|
|
|
6 / 7739
|
|
21
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
22
|
(OMIM)
|
Immobility |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
25
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
26
|
(HPO:0040189)
|
Scaling skin |
|
|
|
|
6 / 7739
|