|
1
|
(HPO:0000544)
|
External ophthalmoplegia |
Rare [HPO:skoehler]
|
|
|
|
40 / 7739
|
|
2
|
(HPO:0000709)
|
Psychosis |
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
28516284
|
IBIS
|
197 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
|
|
28516284
|
IBIS
|
1245 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001254)
|
Lethargy |
|
|
28516284
|
IBIS
|
104 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
28516284
|
IBIS
|
853 / 7739
|
|
8
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
9
|
(HPO:0001508)
|
Failure to thrive |
|
|
28516284
|
IBIS
|
454 / 7739
|
|
10
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
|
|
76 / 7739
|
|
11
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
|
|
192 / 7739
|
|
12
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
|
13
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
14
|
(HPO:0003198)
|
Myopathy |
|
|
28516284
|
IBIS
|
151 / 7739
|
|
15
|
(HPO:0003219)
|
Ethylmalonic aciduria |
|
|
28516284
|
IBIS
|
5 / 7739
|
|
16
|
(HPO:0004911)
|
Episodic metabolic acidosis |
|
|
|
|
5 / 7739
|
|
17
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
28516284
|
IBIS
|
153 / 7739
|
|
18
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
19
|
(HPO:0000590)
|
Progressive external ophthalmoplegia |
|
|
|
|
23 / 7739
|
|
20
|
(HPO:0011968)
|
Feeding difficulties |
|
|
28516284
|
IBIS
|
240 / 7739
|
|
21
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
22
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
23
|
(HPO:0001276)
|
Hypertonia |
|
|
28516284
|
IBIS
|
317 / 7739
|
|
24
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
28516284
|
IBIS
|
81 / 7739
|
|
25
|
(HPO:0000271)
|
Abnormality of the face |
|
|
28516284
|
IBIS
|
108 / 7739
|
|
26
|
(HPO:0011097)
|
Epileptic spasms |
|
|
28516284
|
IBIS
|
45 / 7739
|
|
27
|
(HPO:0012734)
|
Ketotic hypoglycemia |
|
|
28516284
|
IBIS
|
3 / 7739
|
|
28
|
(HPO:0001332)
|
Dystonia |
|
|
28516284
|
IBIS
|
197 / 7739
|
|
29
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
28516284
|
IBIS
|
51 / 7739
|
|
30
|
(HPO:0001410)
|
Decreased liver function |
|
|
28516284
|
IBIS
|
59 / 7739
|
|
31
|
(HPO:0000648)
|
Optic atrophy |
|
|
28516284
|
IBIS
|
238 / 7739
|
|
32
|
(HPO:0002013)
|
Vomiting |
|
|
28516284
|
IBIS
|
191 / 7739
|
|
33
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
28516284
|
IBIS
|
212 / 7739
|
|
34
|
(HPO:0001943)
|
Hypoglycemia |
|
|
28516284
|
IBIS
|
131 / 7739
|
|
35
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
28516284
|
IBIS
|
358 / 7739
|
|
36
|
(HPO:0002014)
|
Diarrhea |
|
|
28516284
|
IBIS
|
225 / 7739
|
|
37
|
(HPO:0000952)
|
Jaundice |
|
|
28516284
|
IBIS
|
105 / 7739
|
|
38
|
(HPO:0001328)
|
Specific learning disability |
|
|
28516284
|
IBIS
|
114 / 7739
|
|
39
|
(HPO:0001249)
|
Intellectual disability |
|
|
28516284
|
IBIS
|
1089 / 7739
|