|
1
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
2
|
(HPO:0000269)
|
Prominent occiput |
|
|
|
|
43 / 7739
|
|
3
|
(HPO:0000331)
|
Short chin |
|
|
|
|
33 / 7739
|
|
4
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
5
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
6
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
9
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
10
|
(HPO:0002028)
|
Chronic diarrhea |
rare [HPO:skoehler]
|
|
|
|
51 / 7739
|
|
11
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
12
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
13
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
14
|
(OMIM)
|
Below 3rd percentile |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Flattened midface |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Cellular nonspecific interstitial pneumonitis |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Severe chronic lung disease |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Respiratory failure, fatal (in some patients) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Enteropathy, autoimmune (in some patients) |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
21
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
22
|
(OMIM)
|
Global hypotonia |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Hypothyroidism, autoantibody-positive (in some patients) |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0100651)
|
Type I diabetes mellitus |
|
|
|
|
44 / 7739
|
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
26
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
27
|
(HPO:0002960)
|
Autoimmunity |
|
|
|
|
78 / 7739
|
|
28
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|