Symptom Information: Sort according to HPO 

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