|
1
|
(HPO:0002335)
|
Agenesis of cerebellar vermis |
Very frequent [Orphanet]
hallmark [HPO]
|
|
15543146
|
IBIS
|
25 / 7739
|
|
2
|
(HPO:0000369)
|
Low-set ears |
Very frequent [Orphanet]
hallmark [HPO]
|
|
10507728; 19650412
|
IBIS
|
372 / 7739
|
|
3
|
(HPO:0000648)
|
Optic atrophy |
Very frequent [Orphanet]
|
|
21749365
|
IBIS
|
238 / 7739
|
|
4
|
(HPO:0000325)
|
Triangular face |
Very frequent [Orphanet]
|
|
10507728; 21749365; 19650412
|
IBIS
|
91 / 7739
|
|
5
|
(HPO:0000331)
|
Short chin |
|
|
10507728; 21749365; 19650412
|
IBIS
|
33 / 7739
|
|
6
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
10507728; 15543146; 21749365; 19650412
|
IBIS
|
358 / 7739
|
|
7
|
(HPO:0001387)
|
Joint stiffness |
|
|
10507728; 21749365; 19650412
|
IBIS
|
322 / 7739
|
|
8
|
(HPO:0012195)
|
Irregular respiration |
|
|
10507728; 19650412
|
IBIS
|
3 / 7739
|
|
9
|
(HPO:0100022)
|
Abnormality of movement |
|
|
10507728
|
IBIS
|
129 / 7739
|
|
10
|
(HPO:0001776)
|
Bilateral talipes equinovarus |
|
|
10507728; 21749365
|
IBIS
|
8 / 7739
|
|
11
|
(HPO:0000609)
|
Optic nerve hypoplasia |
|
|
10507728; 15543146
|
IBIS
|
26 / 7739
|
|
12
|
(HPO:0001903)
|
Anemia |
|
|
10507728; 21749365
|
IBIS
|
289 / 7739
|
|
13
|
(HPO:0003717)
|
Minimal subcutaneous fat |
|
|
10507728; 15543146; 19650412
|
IBIS
|
4 / 7739
|
|
14
|
(HPO:0002353)
|
EEG abnormality |
|
|
10507728
|
IBIS
|
188 / 7739
|
|
15
|
(MedDRA:10028933)
|
Neonatal diabetes mellitus |
|
|
10507728; 15543146; 21749365
|
IBIS
|
1 / 7739
|
|
16
|
(HPO:0003074)
|
Hyperglycemia |
|
|
10507728; 15543146; 19650412
|
IBIS
|
37 / 7739
|
|
17
|
(HPO:0000952)
|
Jaundice |
|
|
10507728
|
IBIS
|
105 / 7739
|
|
18
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
10507728; 21749365; 19650412
|
IBIS
|
114 / 7739
|
|
19
|
(HPO:0012642)
|
Cerebellar agenesis |
|
|
10507728; 15543146; 21749365
|
IBIS
|
2 / 7739
|
|
20
|
(HPO:0002104)
|
Apnea |
|
|
10507728
|
IBIS
|
106 / 7739
|
|
21
|
(HPO:0012448)
|
Delayed myelination |
|
|
10507728
|
IBIS
|
51 / 7739
|
|
22
|
(HPO:0001738)
|
Exocrine pancreatic insufficiency |
|
|
10507728
|
IBIS
|
23 / 7739
|
|
23
|
(HPO:0005972)
|
Respiratory acidosis |
|
|
10507728
|
IBIS
|
3 / 7739
|
|
24
|
(HPO:0010557)
|
Overlapping fingers |
|
|
10507728
|
IBIS
|
9 / 7739
|
|
25
|
(HPO:0000543)
|
Optic disc pallor |
|
|
10507728; 15543146
|
IBIS
|
67 / 7739
|
|
26
|
(HPO:0000444)
|
Convex nasal ridge |
|
|
10507728; 19650412
|
IBIS
|
87 / 7739
|
|
27
|
(HPO:0100800)
|
Aplasia/Hypoplasia of the pancreas |
|
|
10507728; 15543146; 21749365
|
IBIS
|
8 / 7739
|
|
28
|
(HPO:0001371)
|
Flexion contracture |
|
|
15543146
|
IBIS
|
220 / 7739
|
|
29
|
(HPO:0001250)
|
Seizures |
|
|
19650412
|
IBIS
|
1245 / 7739
|
|
30
|
(HPO:0001562)
|
Oligohydramnios |
|
|
19650412
|
IBIS
|
75 / 7739
|
|
31
|
(HPO:0000639)
|
Nystagmus |
|
|
19650412
|
IBIS
|
555 / 7739
|
|
32
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
19650412
|
IBIS
|
101 / 7739
|
|
33
|
(HPO:0000768)
|
Pectus carinatum |
|
|
19650412
|
IBIS
|
136 / 7739
|
|
34
|
(HPO:0001336)
|
Myoclonus |
|
|
19650412
|
IBIS
|
115 / 7739
|