|
1
|
(HPO:0000238)
|
Hydrocephalus |
Frequent [Orphanet]
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000488)
|
Retinopathy |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
4
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
5
|
(HPO:0000988)
|
Skin rash |
Occasional [Orphanet]
|
|
|
|
98 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
10
|
(HPO:0001889)
|
Megaloblastic anemia |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
11
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Frequent [Orphanet]
|
|
|
|
355 / 7739
|
|
12
|
(HPO:0004372)
|
Reduced consciousness/confusion |
Very frequent [Orphanet]
|
|
|
|
73 / 7739
|
|
13
|
(HPO:0002015)
|
Dysphagia |
Very frequent [Orphanet]
|
|
|
|
301 / 7739
|
|
14
|
(HPO:0100022)
|
Abnormality of movement |
Frequent [Orphanet]
|
|
|
|
129 / 7739
|
|
15
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
16
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
17
|
(HPO:0011830)
|
Abnormality of oral mucosa |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0000206)
|
Glossitis |
|
|
|
|
9 / 7739
|
|
20
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
21
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
22
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
23
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
24
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
|
25
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
26
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
27
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
28
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
29
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
30
|
(HPO:0002156)
|
Homocystinuria |
|
|
|
|
12 / 7739
|
|
31
|
(HPO:0002160)
|
Hyperhomocystinemia |
|
|
|
|
10 / 7739
|
|
32
|
(HPO:0002311)
|
Incoordination |
|
|
|
|
84 / 7739
|
|
33
|
(HPO:0002912)
|
Methylmalonic acidemia |
|
|
|
|
14 / 7739
|
|
34
|
(HPO:0003145)
|
Decreased adenosylcobalamin |
|
|
|
|
10 / 7739
|
|
35
|
(HPO:0003153)
|
Cystathioninuria |
|
|
|
|
5 / 7739
|
|
36
|
(HPO:0003223)
|
Decreased methylcobalamin |
|
|
|
|
11 / 7739
|
|
37
|
(HPO:0003286)
|
Cystathioninemia |
|
|
|
|
3 / 7739
|
|
38
|
(HPO:0003524)
|
Decreased methionine synthase activity |
|
|
|
|
9 / 7739
|
|
39
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
40
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
41
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
42
|
(HPO:0010280)
|
Stomatitis |
|
|
|
|
8 / 7739
|
|
43
|
(HPO:0012120)
|
Methylmalonic aciduria |
|
|
|
|
20 / 7739
|