Symptom Information: Sort according to HPO 

1
 (HPO:0001508) Failure to thrive 454 / 7739
2
 (HPO:0001510) Growth delay 295 / 7739
3
 (HPO:0011968) Feeding difficulties 240 / 7739
4
 (HPO:0001557) Prenatal movement abnormality Very frequent [Orphanet] 16 / 7739
5
 (HPO:0001558) Decreased fetal movement 74 / 7739
6
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
7
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 45 / 7739
8
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
9
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
10
 (HPO:0000268) Dolichocephaly Very frequent [Orphanet] 144 / 7739
11
 (HPO:0000508) Ptosis Very frequent [Orphanet] 459 / 7739
12
 (HPO:0001488) Bilateral ptosis 42 / 7739
13
 (HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
14
 (HPO:0002591) Polyphagia Very frequent [Orphanet] 25 / 7739
15
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
16
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
17
 (HPO:0001611) Nasal speech 48 / 7739
18
 (HPO:0000787) Nephrolithiasis Very frequent [Orphanet] 78 / 7739
19
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
20
 (HPO:0000368) Low-set, posteriorly rotated ears 38 / 7739
21
 (HPO:0000400) Macrotia 108 / 7739
22
 (HPO:0000527) Long eyelashes 46 / 7739
23
 (HPO:0011231) Prominent eyelashes 9 / 7739
24
 (HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
25
 (HPO:0000824) Growth hormone deficiency 56 / 7739
26
 (HPO:0001263) Global developmental delay 853 / 7739
27
 (HPO:0001998) Neonatal hypoglycemia 22 / 7739
28
 (HPO:0003128) Lactic acidosis 116 / 7739
29
 (HPO:0003131) Cystinuria 6 / 7739
30
 (HPO:0005280) Depressed nasal bridge 381 / 7739
31
 (HPO:0008872) Feeding difficulties in infancy 153 / 7739
32
 (HPO:0010804) Tented upper lip vermilion 47 / 7739
33
 (HPO:0010864) Intellectual disability, severe 120 / 7739
34
 (HPO:0011398) Central hypotonia 12 / 7739
35
 (OMIM) Rapid weight gain in late childhood (HCS) 3 / 7739
36
 (HPO:0001525) Severe failure to thrive 13 / 7739
37
 (HPO:0000929) Abnormality of the skull 53 / 7739
38
 (OMIM) Almond-shaped eyes 12 / 7739
39
 (OMIM) Bladder cystine calculi (2p21del) 3 / 7739
40
 (HPO:0003200) Ragged-red muscle fibers 37 / 7739
41
 (OMIM) Normal muscle fiber (HCS) 3 / 7739
42
 (OMIM) Seizures, neonatal (2p21del) 3 / 7739
43
 (OMIM) No seizures 5 / 7739
44
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
45
 (HPO:0010547) Muscle flaccidity 466 / 7739
46
 (OMIM) Developmental delay, severe 13 / 7739
47
 (OMIM) Mental retardation, moderate-severe (2p21del) 4 / 7739
48
 (OMIM) Hyperphagia in late childhood (HCS) 3 / 7739
49
 (OMIM) Cystinuria, type I (HCS and 2p21del) 3 / 7739
50
 (OMIM) Postdates delivery (HCS) 3 / 7739
51
 (OMIM) Normal lactate (HCS) 3 / 7739
52
 (OMIM) Transient neonatal hypocalcemia (2p21del) 3 / 7739
53
 (OMIM) Transient neonatal hypoglycemia (2p21del) 3 / 7739
54
 (OMIM) Increased urinary cystine, arginine, lysine, and ornithine (HCS and 2p21del) 3 / 7739
55
 (OMIM) Normal mitochondrial respiratory chain complex I-V (HCS) 3 / 7739
56
 (OMIM) Decreased mitochondrial respiratory chain complex (2p21del) 3 / 7739
57
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
58
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
59
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
60
 (HPO:0001466) Contiguous gene syndrome 8 / 7739