|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
3
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
4
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
|
5
|
(HPO:0000992)
|
Cutaneous photosensitivity |
|
|
|
|
75 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0001264)
|
Spastic diplegia |
|
|
|
|
24 / 7739
|
|
10
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
11
|
(HPO:0001338)
|
Partial agenesis of the corpus callosum |
|
|
|
|
22 / 7739
|
|
12
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
13
|
(HPO:0001598)
|
Concave nail |
|
|
|
|
14 / 7739
|
|
14
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
15
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
16
|
(HPO:0002224)
|
Woolly hair |
|
|
|
|
26 / 7739
|
|
17
|
(HPO:0002599)
|
Head titubation |
|
|
|
|
7 / 7739
|
|
18
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
19
|
(HPO:0008003)
|
Jerky ocular pursuit movements |
|
|
|
|
4 / 7739
|
|
20
|
(HPO:0008064)
|
Ichthyosis |
|
|
|
|
108 / 7739
|
|
21
|
(HPO:0009886)
|
Trichorrhexis nodosa |
|
|
|
|
12 / 7739
|
|
22
|
(HPO:0100018)
|
Nuclear cataract |
|
|
|
|
14 / 7739
|
|
23
|
(OMIM)
|
Short, woolly hair |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Stubby eyebrow hair |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Central nuclear cataracts |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
27
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
28
|
(OMIM)
|
Flexural eczema |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Reduced hair cystine |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Abnormal cerebral cortical cell layering |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|