1
|
(HPO:0001263)
|
Global developmental delay |
Very frequent [IBIS]
|
98% (n=40)
|
25326274
|
IBIS
|
853 / 7739
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [IBIS]
Very frequent [Orphanet]
|
95% (n=42)
|
25326274
|
IBIS
|
990 / 7739
|
3
|
(HPO:0001510)
|
Growth delay |
Very frequent [IBIS]
|
94% (n=35)
|
25326274
|
IBIS
|
295 / 7739
|
4
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [IBIS]
|
93% (n=44)
|
25326274
|
IBIS
|
328 / 7739
|
5
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Very frequent [IBIS]
|
93% (n=45)
|
25326274
|
IBIS
|
355 / 7739
|
6
|
(HPO:0001638)
|
Cardiomyopathy |
Frequent [IBIS]
Frequent [Orphanet]
|
89% (n=45)
|
25326274
|
IBIS
|
192 / 7739
|
7
|
(HPO:0004322)
|
Short stature |
Frequent [IBIS]
|
89% (n=38)
|
25326274
|
IBIS
|
1232 / 7739
|
8
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
Frequent [IBIS]
|
84% (n=45)
|
25326274
|
IBIS
|
137 / 7739
|
9
|
(HPO:0011925)
|
Decreased activity of mitochondrial ATP synthase complex |
Frequent [IBIS]
|
82% (n=11)
|
25326274
|
IBIS
|
10 / 7739
|
10
|
(HPO:0001622)
|
Premature birth |
Frequent [IBIS]
|
75% (n=48)
|
25326274
|
IBIS
|
100 / 7739
|
11
|
(HPO:0000252)
|
Microcephaly |
Frequent [IBIS]
Very frequent [Orphanet]
|
71% (n=41)
|
25326274
|
IBIS
|
832 / 7739
|
12
|
(HPO:0000028)
|
Cryptorchidism |
Frequent [IBIS]
|
67% (n=14)
|
20335238
|
IBIS
|
347 / 7739
|
13
|
(HPO:0001999)
|
Abnormal facial shape |
Frequent [IBIS]
|
66% (n=41)
|
25326274
|
IBIS
|
169 / 7739
|
14
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [IBIS]
Frequent [Orphanet]
|
54% (n=48)
|
25326274
|
IBIS
|
410 / 7739
|
15
|
(HPO:0000047)
|
Hypospadias |
Frequent [IBIS]
Frequent [Orphanet]
|
50% (n=26)
|
25326274
|
IBIS
|
250 / 7739
|
16
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
Frequent [IBIS]
|
48% (n=21)
|
25326274
|
IBIS
|
35 / 7739
|
17
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [IBIS]
Frequent [Orphanet]
|
47% (n=43)
|
25326274
|
IBIS
|
358 / 7739
|
18
|
(HPO:0001562)
|
Oligohydramnios |
Frequent [IBIS]
Very frequent [Orphanet]
|
40% (n=35)
|
25326274
|
IBIS
|
75 / 7739
|
19
|
(HPO:0000083)
|
Renal insufficiency |
Frequent [IBIS]
|
34% (n=45)
|
25326274
|
IBIS
|
232 / 7739
|
20
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
Frequent [IBIS]
|
33% (n=21)
|
25326274
|
IBIS
|
31 / 7739
|
21
|
(HPO:0001635)
|
Congestive heart failure |
Frequent [IBIS]
Frequent [Orphanet]
|
|
25326274
|
IBIS
|
232 / 7739
|
22
|
(HPO:0001987)
|
Hyperammonemia |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
25326274
|
IBIS
|
50 / 7739
|
23
|
(HPO:0003128)
|
Lactic acidosis |
Frequent [IBIS]
|
|
25326274
|
IBIS
|
116 / 7739
|
24
|
(HPO:0003535)
|
3-Methylglutaconic aciduria |
Frequent [IBIS]
|
|
25326274
|
IBIS
|
10 / 7739
|
25
|
(HPO:0008947)
|
Infantile muscular hypotonia |
Frequent [IBIS]
|
|
25326274
|
IBIS
|
482 / 7739
|
26
|
(HPO:0008872)
|
Feeding difficulties in infancy |
Frequent [IBIS]
|
|
25326274
|
IBIS
|
153 / 7739
|
27
|
(HPO:0001254)
|
Lethargy |
Frequent [IBIS]
|
|
25326274
|
IBIS
|
104 / 7739
|
28
|
(HPO:0002013)
|
Vomiting |
Occasional [IBIS]
|
26% (n=39)
|
25326274
|
IBIS
|
191 / 7739
|
29
|
(HPO:0002092)
|
Pulmonary hypertension |
Occasional [IBIS]
|
22% (n=45)
|
25326274
|
IBIS
|
109 / 7739
|
30
|
(HPO:0000486)
|
Strabismus |
Occasional [IBIS]
|
16% (n=45)
|
25326274
|
IBIS
|
576 / 7739
|
31
|
(HPO:0001642)
|
Pulmonic stenosis |
Occasional [IBIS]
|
16% (n=45)
|
25326274
|
IBIS
|
89 / 7739
|
32
|
(HPO:0001716)
|
Wolff-Parkinson-White syndrome |
Occasional [IBIS]
|
13% (n=45)
|
25326274
|
IBIS
|
21 / 7739
|
33
|
(HPO:0000518)
|
Cataract |
Occasional [IBIS]
|
11% (n=45)
|
25326274
|
IBIS
|
454 / 7739
|
34
|
(HPO:0001631)
|
Atria septal defect |
Occasional [IBIS]
|
10% (n=42)
|
25326274
|
IBIS
|
274 / 7739
|
35
|
(HPO:0000580)
|
Pigmentary retinopathy |
Occasional [IBIS]
|
9% (n=45)
|
25326274
|
IBIS
|
49 / 7739
|
36
|
(HPO:0003074)
|
Hyperglycemia |
Occasional [IBIS]
|
|
25326274
|
IBIS
|
37 / 7739
|
37
|
(HPO:0001943)
|
Hypoglycemia |
Occasional [IBIS]
|
|
25326274
|
IBIS
|
131 / 7739
|
38
|
(HPO:0002902)
|
Hyponatremia |
Occasional [IBIS]
|
|
25326274
|
IBIS
|
37 / 7739
|
39
|
(HPO:0001647)
|
Bicuspid aortic valve |
Rare [IBIS]
|
5% (n=42)
|
25326274
|
IBIS
|
34 / 7739
|
40
|
(HPO:0001680)
|
Coarctation of aorta |
Rare [IBIS]
|
5% (n=42)
|
25326274
|
IBIS
|
57 / 7739
|
41
|
(HPO:0001644)
|
Dilated cardiomyopathy |
Rare [IBIS]
|
4% (n=45)
|
25326274
|
IBIS
|
141 / 7739
|
42
|
(HPO:0000646)
|
Amblyopia |
Rare [IBIS]
|
4% (n=45)
|
25326274
|
IBIS
|
42 / 7739
|
43
|
(HPO:0000365)
|
Hearing impairment |
Rare [IBIS]
|
4% (n=45)
|
25326274
|
IBIS
|
539 / 7739
|
44
|
(HPO:0005301)
|
Persistent left superior vena cava |
Rare [IBIS]
|
2% (n=42)
|
25326274
|
IBIS
|
4 / 7739
|
45
|
(HPO:0001508)
|
Failure to thrive |
|
|
21147908
|
IBIS
|
454 / 7739
|
46
|
(HPO:0001324)
|
Muscle weakness |
|
|
20728387
|
IBIS
|
859 / 7739
|
47
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
21147908
|
IBIS
|
163 / 7739
|
48
|
(HPO:0000369)
|
Low-set ears |
|
|
25326274
|
IBIS
|
372 / 7739
|
49
|
(HPO:0001274)
|
Agenesis of corpus callosum |
|
|
25326274
|
IBIS
|
142 / 7739
|
50
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
25326274
|
IBIS
|
161 / 7739
|
51
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Frequent [Orphanet]
|
|
25326274
|
IBIS
|
187 / 7739
|
52
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
25326274
|
IBIS
|
467 / 7739
|
53
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
25326274
|
IBIS
|
1245 / 7739
|
54
|
(HPO:0001249)
|
Intellectual disability |
|
|
25326274
|
IBIS
|
1089 / 7739
|
55
|
(HPO:0001270)
|
Motor delay |
|
|
21147908
|
IBIS
|
322 / 7739
|
56
|
(HPO:0000023)
|
Inguinal hernia |
|
|
25326274
|
IBIS
|
181 / 7739
|
57
|
(HPO:0000077)
|
Abnormality of the kidney |
Occasional [Orphanet]
|
|
25326274
|
IBIS
|
73 / 7739
|
58
|
(HPO:0000308)
|
Microretrognathia |
|
|
25326274
|
IBIS
|
78 / 7739
|
59
|
(HPO:0000343)
|
Long philtrum |
|
|
21147908
|
IBIS
|
262 / 7739
|
60
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
25326274
|
IBIS
|
290 / 7739
|
61
|
(HPO:0001251)
|
Ataxia |
|
|
25326274
|
IBIS
|
413 / 7739
|
62
|
(HPO:0002066)
|
Gait ataxia |
|
|
21147908
|
IBIS
|
327 / 7739
|
63
|
(HPO:0001298)
|
Encephalopathy |
|
|
21147908
|
IBIS
|
72 / 7739
|
64
|
(HPO:0001337)
|
Tremor |
|
|
25326274
|
IBIS
|
200 / 7739
|
65
|
(HPO:0001537)
|
Umbilical hernia |
|
|
25326274
|
IBIS
|
206 / 7739
|
66
|
(HPO:0001646)
|
Abnormality of the aortic valve |
Frequent [Orphanet]
|
|
25326274
|
IBIS
|
55 / 7739
|
67
|
(HPO:0002151)
|
Increased serum lactate |
|
|
25326274
|
IBIS
|
92 / 7739
|
68
|
(HPO:0005469)
|
Flat occiput |
|
|
21147908
|
IBIS
|
30 / 7739
|
69
|
(OMIM)
|
Respiratory insufficiency at birth |
|
|
25326274
|
IBIS
|
1 / 7739
|
70
|
(OMIM)
|
Pseudoobstruction |
|
|
25326274
|
IBIS
|
2 / 7739
|
71
|
(OMIM)
|
Decreased mitochondrial complex V activity |
|
|
25326274
|
IBIS
|
1 / 7739
|
72
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
21147908
|
IBIS
|
949 / 7739
|
73
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
21147908
|
IBIS
|
492 / 7739
|
74
|
(HPO:0001522)
|
Death in infancy |
Frequent [Orphanet]
|
|
25326274
|
IBIS
|
275 / 7739
|
75
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
21147908
|
IBIS
|
328 / 7739
|
76
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
20335238
|
IBIS
|
296 / 7739
|
77
|
(OMIM)
|
Hyperlactatemia |
|
|
25326274
|
IBIS
|
3 / 7739
|
78
|
(HPO:0002149)
|
Hyperuricemia |
|
|
25326274
|
IBIS
|
37 / 7739
|
79
|
(HPO:0003215)
|
Dicarboxylic aciduria |
|
|
25326274
|
IBIS
|
7 / 7739
|
80
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
25326274
|
IBIS
|
33 / 7739
|
81
|
(HPO:0001265)
|
Hyporeflexia |
|
|
25326274
|
IBIS
|
208 / 7739
|
82
|
(HPO:0000039)
|
Epispadias |
|
|
25326274
|
IBIS
|
7 / 7739
|
83
|
(HPO:0001947)
|
Renal tubular acidosis |
|
|
25326274
|
IBIS
|
21 / 7739
|
84
|
(HPO:0000126)
|
Hydronephrosis |
|
|
25326274
|
IBIS
|
119 / 7739
|
85
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
25326274
|
IBIS
|
120 / 7739
|
86
|
(HPO:0000733)
|
Stereotypy |
|
|
25326274
|
IBIS
|
58 / 7739
|
87
|
(HPO:0000823)
|
Delayed puberty |
|
|
25326274
|
IBIS
|
65 / 7739
|
88
|
(HPO:0040086)
|
Abnormal prolactin level |
|
|
25326274
|
IBIS
|
2 / 7739
|
89
|
(HPO:0003819)
|
Death in childhood |
|
|
25326274
|
IBIS
|
42 / 7739
|
90
|
(HPO:0006879)
|
Pontocerebellar atrophy |
|
|
25326274
|
IBIS
|
6 / 7739
|
91
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
25326274
|
IBIS
|
197 / 7739
|
92
|
(HPO:0001273)
|
Abnormality of the corpus callosum |
|
|
25326274
|
IBIS
|
20 / 7739
|
93
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
25326274
|
IBIS
|
73 / 7739
|
94
|
(HPO:0002197)
|
Generalized seizures |
|
|
25326274
|
IBIS
|
30 / 7739
|
95
|
(HPO:0000707)
|
Abnormality of the nervous system |
|
|
21147908
|
IBIS
|
61 / 7739
|
96
|
(HPO:0001233)
|
2-3 finger syndactyly |
|
|
25326274
|
IBIS
|
7 / 7739
|
97
|
(HPO:0010442)
|
Polydactyly |
|
|
25326274
|
IBIS
|
69 / 7739
|
98
|
(HPO:0003326)
|
Myalgia |
|
|
25326274
|
IBIS
|
143 / 7739
|
99
|
(HPO:0003738)
|
Exercise-induced myalgia |
|
|
25326274
|
IBIS
|
19 / 7739
|
100
|
(OMIM)
|
Motor dyspraxia |
|
|
25326274
|
IBIS
|
2 / 7739
|
101
|
(HPO:0006582)
|
Reye syndrome-like episodes |
|
|
20728387
|
IBIS
|
5 / 7739
|
102
|
(HPO:0000112)
|
Nephropathy |
|
|
25326274
|
IBIS
|
92 / 7739
|
103
|
(HPO:0002376)
|
Developmental regression |
|
|
25326274
|
IBIS
|
74 / 7739
|
104
|
(HPO:0011451)
|
Congenital microcephaly |
|
|
25326274
|
IBIS
|
6 / 7739
|
105
|
(HPO:0002133)
|
Status epilepticus |
|
|
25326274
|
IBIS
|
59 / 7739
|
106
|
(HPO:0002104)
|
Apnea |
|
|
25326274
|
IBIS
|
106 / 7739
|
107
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
25326274
|
IBIS
|
81 / 7739
|
108
|
(HPO:0002173)
|
Hypoglycemic seizures |
|
|
25326274
|
IBIS
|
19 / 7739
|
109
|
(HPO:0000348)
|
High forehead |
|
|
25326274
|
IBIS
|
157 / 7739
|
110
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
25326274
|
IBIS
|
328 / 7739
|
111
|
(HPO:0007733)
|
Laterally curved eyebrow |
|
|
25326274
|
IBIS
|
2 / 7739
|
112
|
(HPO:0000233)
|
Thin vermilion border |
|
|
25326274
|
IBIS
|
124 / 7739
|
113
|
(HPO:0000508)
|
Ptosis |
|
|
25326274
|
IBIS
|
459 / 7739
|
114
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
25326274
|
IBIS
|
309 / 7739
|
115
|
(HPO:0002009)
|
Potter facies |
|
|
25326274
|
IBIS
|
8 / 7739
|
116
|
(HPO:0001371)
|
Flexion contracture |
|
|
25326274
|
IBIS
|
220 / 7739
|