|
1
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [Orphanet]
|
|
|
|
363 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0002514)
|
Cerebral calcification |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
5
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
6
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
7
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
8
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
|
9
|
(HPO:0000083)
|
Renal insufficiency |
rare [HPO:skoehler]
|
|
|
|
232 / 7739
|
|
10
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
11
|
(HPO:0000308)
|
Microretrognathia |
|
|
|
|
78 / 7739
|
|
12
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
13
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
14
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
15
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
16
|
(HPO:0000518)
|
Cataract |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
17
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
18
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
19
|
(HPO:0000967)
|
Petechiae |
|
|
|
|
26 / 7739
|
|
20
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
21
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
22
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
23
|
(HPO:0001339)
|
Lissencephaly |
|
|
|
|
30 / 7739
|
|
24
|
(HPO:0001410)
|
Decreased liver function |
|
|
|
|
59 / 7739
|
|
25
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
26
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
27
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
28
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
29
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
30
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
31
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
32
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
33
|
(HPO:0002922)
|
Increased CSF protein |
|
|
|
|
27 / 7739
|
|
34
|
(HPO:0007759)
|
Opacification of the corneal stroma |
rare [HPO:skoehler]
|
|
|
|
77 / 7739
|
|
35
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
36
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
37
|
(HPO:0011451)
|
Congenital microcephaly |
|
|
|
|
6 / 7739
|
|
38
|
(OMIM)
|
Bitemporal grooving |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0010697)
|
Anterior pyramidal cataract |
|
|
|
|
22 / 7739
|
|
40
|
(OMIM)
|
Apneic spells |
|
|
|
|
3 / 7739
|
|
41
|
(OMIM)
|
Small echogenic kidneys |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Cortical calcifications (in some patients) |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Developmental delay, profound |
|
|
|
|
6 / 7739
|
|
44
|
(OMIM)
|
Refractory seizures |
|
|
|
|
15 / 7739
|
|
45
|
(OMIM)
|
Intracranial calcifications, band-like, particularly periventricular and in the basal ganglia and thalamus |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Calcification in the pons and cerebellum |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Hypogenesis of the corpus callosum |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
No evidence of intrauterine infection in mother or newborn |
|
|
|
|
1 / 7739
|
|
49
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
50
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|