|
1
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
2
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
4
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
|
|
42 / 7739
|
|
5
|
(HPO:0006136)
|
Bilateral postaxial polydactyly |
|
|
|
|
30 / 7739
|
|
6
|
(HPO:0000598)
|
Abnormality of the ear |
|
|
|
|
98 / 7739
|
|
7
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
10
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
11
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
12
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
13
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
23869298; 19496967
|
IBIS
|
358 / 7739
|
|
14
|
(HPO:0001518)
|
Small for gestational age |
|
|
23869298; 20009086
|
IBIS
|
107 / 7739
|
|
15
|
(HPO:0001993)
|
Ketoacidosis |
|
|
23869298
|
IBIS
|
17 / 7739
|
|
16
|
(HPO:0002521)
|
Hypsarrhythmia |
|
|
|
|
43 / 7739
|
|
17
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
18
|
(HPO:0002715)
|
Abnormality of the immune system |
|
|
|
|
46 / 7739
|
|
19
|
(HPO:0003074)
|
Hyperglycemia |
hallmark
|
|
23869298
|
IBIS
|
37 / 7739
|
|
20
|
(HPO:0003121)
|
Limb joint contracture |
|
|
|
|
8 / 7739
|
|
21
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
22
|
(HPO:0005487)
|
Prominent metopic ridge |
|
|
|
|
28 / 7739
|
|
23
|
(HPO:0006279)
|
Beta-cell dysfunction |
|
|
23869298; 20009086
|
IBIS
|
5 / 7739
|
|
24
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
25
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
|
26
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
27
|
(HPO:0007178)
|
Motor polyneuropathy |
|
|
|
|
31 / 7739
|
|
28
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
29
|
(OMIM)
|
Postnatal growth catch-up occurs in treated patients without neurologic abnormalities |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Thick ears |
|
|
|
|
3 / 7739
|
|
31
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
32
|
(OMIM)
|
Diffuse hypotonia |
|
|
|
|
3 / 7739
|
|
33
|
(OMIM)
|
EEG shows epileptiform activity |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Diabetic peripheral neuropathy in long-standing cases |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Absence of pancreatic autoantibodies |
|
|
|
|
2 / 7739
|
|
36
|
(HPO:0000857)
|
Neonatal insulin-dependent diabetes mellitus |
Very frequent
|
|
23869298; 20009086; 19496967
|
IBIS
|
7 / 7739
|
|
37
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
23869298
|
IBIS
|
114 / 7739
|
|
38
|
(HPO:0100800)
|
Aplasia/Hypoplasia of the pancreas |
|
|
23869298; 19496967
|
IBIS
|
8 / 7739
|
|
39
|
(HPO:0002098)
|
Respiratory distress |
|
|
23869298
|
IBIS
|
75 / 7739
|
|
40
|
(HPO:0000252)
|
Microcephaly |
|
|
23869298
|
IBIS
|
832 / 7739
|
|
41
|
(HPO:0000851)
|
Congenital hypothyroidism |
|
|
23869298
|
IBIS
|
16 / 7739
|
|
42
|
(HPO:0001087)
|
Congenital glaucoma |
|
|
23869298
|
IBIS
|
12 / 7739
|
|
43
|
(HPO:0000107)
|
Renal cyst |
|
|
23869298
|
IBIS
|
126 / 7739
|
|
44
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
23869298
|
IBIS
|
169 / 7739
|
|
45
|
(HPO:0001889)
|
Megaloblastic anemia |
|
|
23869298
|
IBIS
|
28 / 7739
|
|
46
|
(HPO:0001738)
|
Exocrine pancreatic insufficiency |
|
|
19496967
|
IBIS
|
23 / 7739
|