|
1
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
2
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
3
|
(HPO:0000368)
|
Low-set, posteriorly rotated ears |
|
|
|
|
38 / 7739
|
|
4
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
5
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
6
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
|
|
42 / 7739
|
|
7
|
(HPO:0006136)
|
Bilateral postaxial polydactyly |
|
|
|
|
30 / 7739
|
|
8
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
|
9
|
(HPO:0011231)
|
Prominent eyelashes |
|
|
|
|
9 / 7739
|
|
10
|
(HPO:0000787)
|
Nephrolithiasis |
|
|
|
|
78 / 7739
|
|
11
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
|
|
48 / 7739
|
|
12
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
|
|
56 / 7739
|
|
13
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
14
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
15
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
16
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
17
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
18
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
|
19
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
20
|
(HPO:0003128)
|
Lactic acidosis |
|
|
|
|
116 / 7739
|
|
21
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
22
|
(HPO:0010804)
|
Tented upper lip vermilion |
|
|
|
|
47 / 7739
|
|
23
|
(OMIM)
|
Rapid weight gain in late childhood (HCS) |
|
|
|
|
3 / 7739
|
|
24
|
(HPO:0001525)
|
Severe failure to thrive |
|
|
|
|
13 / 7739
|
|
25
|
(HPO:0000929)
|
Abnormality of the skull |
|
|
|
|
53 / 7739
|
|
26
|
(OMIM)
|
Almond-shaped eyes |
|
|
|
|
12 / 7739
|
|
27
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
28
|
(OMIM)
|
Bladder cystine calculi (2p21del) |
|
|
|
|
3 / 7739
|
|
29
|
(HPO:0003200)
|
Ragged-red muscle fibers |
|
|
|
|
37 / 7739
|
|
30
|
(OMIM)
|
Normal muscle fiber (HCS) |
|
|
|
|
3 / 7739
|
|
31
|
(OMIM)
|
Seizures, neonatal (2p21del) |
|
|
|
|
3 / 7739
|
|
32
|
(OMIM)
|
No seizures |
|
|
|
|
5 / 7739
|
|
33
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
34
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
35
|
(OMIM)
|
Developmental delay, severe |
|
|
|
|
13 / 7739
|
|
36
|
(OMIM)
|
Mental retardation, moderate-severe (2p21del) |
|
|
|
|
4 / 7739
|
|
37
|
(OMIM)
|
Hyperphagia in late childhood (HCS) |
|
|
|
|
3 / 7739
|
|
38
|
(OMIM)
|
Cystinuria, type I (HCS and 2p21del) |
|
|
|
|
3 / 7739
|
|
39
|
(OMIM)
|
Postdates delivery (HCS) |
|
|
|
|
3 / 7739
|
|
40
|
(OMIM)
|
Normal lactate (HCS) |
|
|
|
|
3 / 7739
|
|
41
|
(OMIM)
|
Transient neonatal hypocalcemia (2p21del) |
|
|
|
|
3 / 7739
|
|
42
|
(OMIM)
|
Transient neonatal hypoglycemia (2p21del) |
|
|
|
|
3 / 7739
|
|
43
|
(OMIM)
|
Increased urinary cystine, arginine, lysine, and ornithine (HCS and 2p21del) |
|
|
|
|
3 / 7739
|
|
44
|
(OMIM)
|
Normal mitochondrial respiratory chain complex I-V (HCS) |
|
|
|
|
3 / 7739
|
|
45
|
(OMIM)
|
Decreased mitochondrial respiratory chain complex (2p21del) |
|
|
|
|
3 / 7739
|