|
1
|
(HPO:0001387)
|
Joint stiffness |
Occasional [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
6
|
(HPO:0001276)
|
Hypertonia |
Frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
7
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Frequent [Orphanet]
|
|
|
|
180 / 7739
|
|
8
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
9
|
(HPO:0000340)
|
Sloping forehead |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
|
10
|
(HPO:0001557)
|
Prenatal movement abnormality |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
|
11
|
(HPO:0004331)
|
Decreased skull ossification |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0002536)
|
Abnormal cortical gyration |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
13
|
(HPO:0001992)
|
Organic aciduria |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
14
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [Orphanet]
|
|
|
|
467 / 7739
|
|
15
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
16
|
(HPO:0002414)
|
Spina bifida |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
17
|
(HPO:0004360)
|
Abnormality of acid-base homeostasis |
Very frequent [Orphanet]
|
|
|
|
5 / 7739
|
|
18
|
(HPO:0002119)
|
Ventriculomegaly |
Frequent [Orphanet]
|
|
|
|
253 / 7739
|
|
19
|
(HPO:0000253)
|
Progressive microcephaly |
|
|
|
|
37 / 7739
|
|
20
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
21
|
(HPO:0001338)
|
Partial agenesis of the corpus callosum |
|
|
|
|
22 / 7739
|
|
22
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
23
|
(HPO:0002509)
|
Limb hypertonia |
|
|
|
|
13 / 7739
|
|
24
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
25
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
26
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
27
|
(HPO:0100736)
|
Abnormality of the soft palate |
Occasional [Orphanet]
|
|
|
|
6 / 7739
|
|
28
|
(OMIM)
|
Microcephaly, extreme |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Hepatomegaly associated with infection |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Nearly absent cranial vault |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Absence of anterior and posterior fontanelles |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
No psychomotor development |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Immature brain with no gyral development |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Hypoplastic pons |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Lactic acidosis during infection |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Increased urinary 2-ketoglutarate (variable) |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Increased urinary lactate |
|
|
|
|
4 / 7739
|
|
38
|
(HPO:0012795)
|
Abnormality of the optic disc |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
39
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
40
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
41
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
|
42
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
43
|
(HPO:0100851)
|
Abnormal emotion/affect behavior |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
45
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|