|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
3
|
(HPO:0002299)
|
Brittle hair |
|
|
|
|
52 / 7739
|
|
4
|
(HPO:0009886)
|
Trichorrhexis nodosa |
|
|
|
|
12 / 7739
|
|
5
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
6
|
(HPO:0000144)
|
Decreased fertility |
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
8
|
(HPO:0000286)
|
Epicanthus |
rare [HPO:skoehler]
|
|
|
|
371 / 7739
|
|
9
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
10
|
(HPO:0000463)
|
Anteverted nares |
rare [HPO:skoehler]
|
|
|
|
305 / 7739
|
|
11
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
12
|
(HPO:0000648)
|
Optic atrophy |
rare [HPO:skoehler]
|
|
|
|
238 / 7739
|
|
13
|
(HPO:0000685)
|
Hypoplasia of teeth |
rare [HPO:skoehler]
|
|
|
|
12 / 7739
|
|
14
|
(HPO:0001338)
|
Partial agenesis of the corpus callosum |
rare [HPO:skoehler]
|
|
|
|
22 / 7739
|
|
15
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
16
|
(HPO:0001598)
|
Concave nail |
|
|
|
|
14 / 7739
|
|
17
|
(HPO:0001629)
|
Ventricular septal defect |
rare [HPO:skoehler]
|
|
|
|
316 / 7739
|
|
18
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
19
|
(HPO:0002120)
|
Cerebral cortical atrophy |
rare [HPO:skoehler]
|
|
|
|
187 / 7739
|
|
20
|
(HPO:0003196)
|
Short nose |
rare [HPO:skoehler]
|
|
|
|
264 / 7739
|
|
21
|
(HPO:0006829)
|
Severe muscular hypotonia |
rare [HPO:skoehler]
|
|
|
|
29 / 7739
|
|
22
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|