1
|
(HPO:0002156)
|
Homocystinuria |
Very frequent [IBIS]
|
|
28572511
|
IBIS
|
12 / 7739
|
2
|
(HPO:0012120)
|
Methylmalonic aciduria |
Very frequent [IBIS]
|
|
28572511
|
IBIS
|
20 / 7739
|
3
|
(HPO:0100502)
|
Vitamin B12 deficiency |
Very frequent [IBIS]
|
|
28572511
|
IBIS
|
4 / 7739
|
4
|
(HPO:0009830)
|
Peripheral neuropathy |
Frequent [IBIS]
|
|
28572511
|
IBIS
|
206 / 7739
|
5
|
(HPO:0000488)
|
Retinopathy |
Frequent [IBIS]
|
|
28572511
|
IBIS
|
75 / 7739
|
6
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
7
|
(HPO:0000028)
|
Cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
347 / 7739
|
8
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
|
|
38 / 7739
|
9
|
(HPO:0000316)
|
Hypertelorism |
rare [HPO:skoehler]
|
|
|
|
644 / 7739
|
10
|
(HPO:0000347)
|
Micrognathia |
rare [HPO:skoehler]
|
|
|
|
426 / 7739
|
11
|
(HPO:0001254)
|
Lethargy |
|
|
|
|
104 / 7739
|
12
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
13
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
14
|
(HPO:0001631)
|
Atria septal defect |
rare [HPO:skoehler]
|
|
|
|
274 / 7739
|
15
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
|
|
55 / 7739
|
16
|
(HPO:0001680)
|
Coarctation of aorta |
rare [HPO:skoehler]
|
|
|
|
57 / 7739
|
17
|
(HPO:0005113)
|
Dilatation of the aortic arch |
|
|
|
|
12 / 7739
|
18
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
19
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
20
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
21
|
(HPO:0002020)
|
Gastroesophageal reflux |
rare [HPO:skoehler]
|
|
|
|
101 / 7739
|
22
|
(HPO:0002059)
|
Cerebral atrophy |
rare [HPO:skoehler]
|
|
|
|
171 / 7739
|
23
|
(HPO:0002092)
|
Pulmonary hypertension |
rare [HPO:skoehler]
|
|
|
|
109 / 7739
|
24
|
(HPO:0002160)
|
Hyperhomocystinemia |
|
|
|
|
10 / 7739
|
25
|
(HPO:0002533)
|
Abnormal posturing |
|
|
|
|
6 / 7739
|
26
|
(HPO:0002789)
|
Tachypnea |
|
|
|
|
48 / 7739
|
27
|
(HPO:0002912)
|
Methylmalonic acidemia |
|
|
|
|
14 / 7739
|
28
|
(HPO:0003145)
|
Decreased adenosylcobalamin |
|
|
|
|
10 / 7739
|
29
|
(HPO:0003223)
|
Decreased methylcobalamin |
rare [HPO:skoehler]
|
|
|
|
11 / 7739
|
30
|
(HPO:0003524)
|
Decreased methionine synthase activity |
rare [HPO:skoehler]
|
|
|
|
9 / 7739
|
31
|
(HPO:0006610)
|
Wide intermamillary distance |
rare [HPO:skoehler]
|
|
|
|
46 / 7739
|
32
|
(HPO:0011968)
|
Feeding difficulties |
|
|
28572511
|
IBIS
|
240 / 7739
|
33
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
34
|
(HPO:0009117)
|
Aplasia/Hypoplasia of the maxilla |
|
|
|
|
18 / 7739
|
35
|
(OMIM)
|
Enlarged right ventricle (1 patient) |
|
|
|
|
1 / 7739
|
36
|
(OMIM)
|
Small left ventricle (1 patient) |
|
|
|
|
1 / 7739
|
37
|
(OMIM)
|
Breathing difficulties in the neonatal period |
|
|
|
|
1 / 7739
|
38
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
28572511
|
IBIS
|
990 / 7739
|
39
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
40
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
28572511
|
IBIS
|
482 / 7739
|
41
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
42
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
43
|
(OMIM)
|
Decreased activity of methylmalonyl-CoA mutase (MUT, 609058) |
|
|
|
|
2 / 7739
|
44
|
(OMIM)
|
Increased free cyanocobalamin in fibroblasts |
|
|
|
|
2 / 7739
|
45
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
46
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
47
|
(OMIM)
|
Elevated plasma propionylcarnitine |
|
|
28572511
|
IBIS
|
2 / 7739
|
48
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
28572511
|
IBIS
|
153 / 7739
|
49
|
(HPO:0000505)
|
Visual impairment |
|
|
28572511
|
IBIS
|
297 / 7739
|
50
|
(HPO:0010550)
|
Paraplegia |
|
|
28572511
|
IBIS
|
10 / 7739
|
51
|
(HPO:0005599)
|
Hypopigmentation of hair |
|
|
28572511
|
IBIS
|
38 / 7739
|
52
|
(HPO:0005518)
|
Erythrocyte macrocytosis |
|
|
28572511
|
IBIS
|
13 / 7739
|
53
|
(HPO:0012592)
|
Albuminuria |
|
|
28572511
|
IBIS
|
6 / 7739
|