|
1
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0000028)
|
Cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
347 / 7739
|
|
9
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
|
|
38 / 7739
|
|
10
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
11
|
(HPO:0000577)
|
Exotropia |
|
|
|
|
43 / 7739
|
|
12
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
13
|
(HPO:0000718)
|
Aggressive behavior |
rare [HPO:skoehler]
|
|
|
|
109 / 7739
|
|
14
|
(HPO:0000952)
|
Jaundice |
rare [HPO:skoehler]
|
|
|
|
105 / 7739
|
|
15
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
16
|
(HPO:0001337)
|
Tremor |
rare [HPO:skoehler]
|
|
|
|
200 / 7739
|
|
17
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
18
|
(HPO:0001371)
|
Flexion contracture |
rare [HPO:skoehler]
|
|
|
|
220 / 7739
|
|
19
|
(HPO:0001976)
|
Reduced antithrombin III activity |
rare [HPO:skoehler]
|
|
|
|
10 / 7739
|
|
20
|
(HPO:0002093)
|
Respiratory insufficiency |
rare [HPO:skoehler]
|
|
|
|
410 / 7739
|
|
21
|
(HPO:0002104)
|
Apnea |
rare [HPO:skoehler]
|
|
|
|
106 / 7739
|
|
22
|
(HPO:0002910)
|
Elevated hepatic transaminases |
rare [HPO:skoehler]
|
|
|
|
158 / 7739
|
|
23
|
(HPO:0003075)
|
Hypoproteinemia |
rare [HPO:skoehler]
|
|
|
|
27 / 7739
|
|
24
|
(HPO:0003186)
|
Inverted nipples |
|
|
|
|
15 / 7739
|
|
25
|
(HPO:0003642)
|
Type I transferrin isoform profile |
|
|
|
|
16 / 7739
|
|
26
|
(HPO:0010781)
|
Skin dimples |
|
|
|
|
5 / 7739
|
|
27
|
(OMIM)
|
Dysmorphic features |
|
|
|
|
6 / 7739
|
|
28
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
29
|
(MedDRA:10003497)
|
Asphyxia |
|
|
|
|
2 / 7739
|
|
30
|
(OMIM)
|
Fetal fat pads |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Skin dimples on upper thighs (1 patient) |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
33
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
34
|
(OMIM)
|
Hypertonia of extremities |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
36
|
(OMIM)
|
Prolonged APPT (in 1 patient) |
|
|
|
|
2 / 7739
|
|
37
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
38
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
40
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
41
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
42
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|