|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
hallmark [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
3
|
(HPO:0001321)
|
Cerebellar hypoplasia |
hallmark [HPO:skoehler]
|
|
|
|
114 / 7739
|
|
4
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
5
|
(HPO:0005528)
|
Bone marrow hypocellularity |
|
|
|
|
31 / 7739
|
|
6
|
(HPO:0008404)
|
Nail dystrophy |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
|
7
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
8
|
(OMIM)
|
No abnormal skin pigmentation |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0002745)
|
Oral leukoplakia |
|
|
|
|
17 / 7739
|
|
10
|
(OMIM)
|
Immunodeficiency, primarily affecting B cell line |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Shortened telomeres |
|
|
|
|
9 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
13
|
(HPO:0001882)
|
Leukopenia |
|
|
|
|
51 / 7739
|
|
14
|
(HPO:0002583)
|
Colitis |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
|
15
|
(HPO:0004313)
|
Decreased antibody level in blood |
|
|
|
|
47 / 7739
|
|
16
|
(HPO:0010450)
|
Esophageal stenosis |
rare [HPO:skoehler]
|
|
|
|
7 / 7739
|