|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000293)
|
Full cheeks |
rare [HPO:skoehler]
|
|
|
|
85 / 7739
|
|
4
|
(HPO:0000407)
|
Sensorineural hearing impairment |
rare [HPO:skoehler]
|
|
|
|
524 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
|
|
75 / 7739
|
|
9
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
11
|
(HPO:0001972)
|
Macrocytic anemia |
|
|
|
|
26 / 7739
|
|
12
|
(HPO:0002007)
|
Frontal bossing |
rare [HPO:skoehler]
|
|
|
|
366 / 7739
|
|
13
|
(HPO:0002194)
|
Delayed gross motor development |
rare [HPO:skoehler]
|
|
|
|
37 / 7739
|
|
14
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
15
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
16
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
17
|
(HPO:0003256)
|
Abnormality of the coagulation cascade |
|
|
|
|
19 / 7739
|
|
18
|
(HPO:0006554)
|
Acute hepatic failure |
|
|
|
|
20 / 7739
|
|
19
|
(HPO:0010511)
|
Long toe |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
|
20
|
(HPO:0100807)
|
Long fingers |
rare [HPO:skoehler]
|
|
|
|
23 / 7739
|