Symptom Information: Sort according to HPO 

1
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
2
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 45 / 7739
3
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
4
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
5
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
6
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
7
 (HPO:0002514) Cerebral calcification Occasional [Orphanet] 89 / 7739
8
 (HPO:0000325) Triangular face Frequent [Orphanet] 91 / 7739
9
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
10
 (HPO:0000343) Long philtrum Frequent [Orphanet] 262 / 7739
11
 (HPO:0000340) Sloping forehead Occasional [Orphanet] 86 / 7739
12
 (HPO:0002120) Cerebral cortical atrophy Occasional [Orphanet] 187 / 7739
13
 (HPO:0001508) Failure to thrive 454 / 7739
14
 (HPO:0001999) Abnormal facial shape 169 / 7739
15
 (HPO:0002269) Abnormality of neuronal migration 10 / 7739
16
 (HPO:0003128) Lactic acidosis 116 / 7739
17
 (HPO:0005974) Episodic ketoacidosis 4 / 7739
18
 (HPO:0006906) Congenital intracerebral calcification 1 / 7739
19
 (OMIM) Organic acidemia 2 / 7739
20
 (OMIM) 3-hydroxyisobutyric aciduria 2 / 7739
21
 (OMIM) Low free carnitine 1 / 7739
22
 (OMIM) High esterified carnitine 1 / 7739
23
 (OMIM) 3-hydroxyisobutyrate dehydrogenase deficiency 1 / 7739
24
 (HPO:0008772) Aplasia/Hypoplasia of the external ear Frequent [Orphanet] 67 / 7739
25
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
26
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
27
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
28
 (HPO:0003355) Aminoaciduria 65 / 7739