1
|
(HPO:0000154)
|
Wide mouth |
|
|
25112391
|
IBIS
|
137 / 7739
|
2
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
25112391; 23622405
|
IBIS
|
112 / 7739
|
3
|
(HPO:0000248)
|
Brachycephaly |
|
|
25112391; 23622405
|
IBIS
|
222 / 7739
|
4
|
(HPO:0000252)
|
Microcephaly |
Rare [HPO:probinson]
|
|
27504266; 25112391; 23622405
|
IBIS
|
832 / 7739
|
5
|
(HPO:0000319)
|
Smooth philtrum |
|
|
25112391
|
IBIS
|
72 / 7739
|
6
|
(HPO:0000343)
|
Long philtrum |
|
|
25112391; 23622405
|
IBIS
|
262 / 7739
|
7
|
(HPO:0000369)
|
Low-set ears |
|
|
25112391
|
IBIS
|
372 / 7739
|
8
|
(HPO:0000463)
|
Anteverted nares |
|
|
25112391
|
IBIS
|
305 / 7739
|
9
|
(HPO:0000486)
|
Strabismus |
|
|
27504266; 25112391
|
IBIS
|
576 / 7739
|
10
|
(HPO:0000718)
|
Aggressive behavior |
|
|
25112391
|
IBIS
|
109 / 7739
|
11
|
(HPO:0000748)
|
Inappropriate laughter |
|
|
25112391
|
IBIS
|
5 / 7739
|
12
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
25112391
|
IBIS
|
197 / 7739
|
13
|
(HPO:0000752)
|
Hyperactivity |
|
|
25112391
|
IBIS
|
140 / 7739
|
14
|
(HPO:0000817)
|
Poor eye contact |
|
|
25112391; 23622405
|
IBIS
|
26 / 7739
|
15
|
(HPO:0001249)
|
Intellectual disability |
|
|
27504266; 25112391
|
IBIS
|
1089 / 7739
|
16
|
(HPO:0001250)
|
Seizures |
|
|
27504266; 25112391; 23622405
|
IBIS
|
1245 / 7739
|
17
|
(HPO:0001336)
|
Myoclonus |
|
|
25112391
|
IBIS
|
115 / 7739
|
18
|
(HPO:0001510)
|
Growth delay |
|
|
23622405
|
IBIS
|
295 / 7739
|
19
|
(HPO:0002066)
|
Gait ataxia |
|
|
25112391
|
IBIS
|
327 / 7739
|
20
|
(HPO:0003196)
|
Short nose |
|
|
25112391
|
IBIS
|
264 / 7739
|
21
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
23622405
|
IBIS
|
281 / 7739
|
22
|
(HPO:0005487)
|
Prominent metopic ridge |
|
|
25112391
|
IBIS
|
28 / 7739
|
23
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
25112391
|
IBIS
|
46 / 7739
|
24
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
25112391
|
IBIS
|
990 / 7739
|
25
|
(HPO:0001257)
|
Spasticity |
|
|
25112391
|
IBIS
|
251 / 7739
|
26
|
(HPO:0000729)
|
Autistic behavior |
|
|
27504266; 25112391; 23622405
|
IBIS
|
27 / 7739
|
27
|
(HPO:0002878)
|
Respiratory failure |
|
|
27504266; 25112391
|
IBIS
|
57 / 7739
|
28
|
(HPO:0000256)
|
Macrocephaly |
|
|
27504266
|
IBIS
|
298 / 7739
|
29
|
(HPO:0011220)
|
Prominent forehead |
|
|
27504266
|
IBIS
|
137 / 7739
|
30
|
(HPO:0000341)
|
Narrow forehead |
|
|
27504266
|
IBIS
|
96 / 7739
|
31
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
27504266
|
IBIS
|
54 / 7739
|
32
|
(HPO:0000505)
|
Visual impairment |
|
|
27504266
|
IBIS
|
297 / 7739
|
33
|
(HPO:0000483)
|
Astigmatism |
|
|
27504266
|
IBIS
|
67 / 7739
|
34
|
(HPO:0001276)
|
Hypertonia |
|
|
27504266
|
IBIS
|
317 / 7739
|
35
|
(HPO:0001298)
|
Encephalopathy |
|
|
25112391
|
IBIS
|
72 / 7739
|
36
|
(HPO:0002375)
|
Hypokinesia |
|
|
25112391
|
IBIS
|
25 / 7739
|
37
|
(HPO:0001522)
|
Death in infancy |
|
|
25112391
|
IBIS
|
275 / 7739
|
38
|
(HPO:0011152)
|
Early onset absence seizures |
|
|
25112391
|
IBIS
|
1 / 7739
|
39
|
(HPO:0011343)
|
Moderate global developmental delay |
|
|
25112391
|
IBIS
|
5 / 7739
|
40
|
(MedDRA:10051004)
|
Floppy infant |
|
|
25112391
|
IBIS
|
5 / 7739
|
41
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
25112391; 23622405
|
IBIS
|
358 / 7739
|
42
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
25112391
|
IBIS
|
93 / 7739
|
43
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
25112391
|
IBIS
|
80 / 7739
|
44
|
(HPO:0007281)
|
Developmental stagnation |
|
|
25112391
|
IBIS
|
6 / 7739
|
45
|
(HPO:0002329)
|
Drowsiness |
|
|
25112391
|
IBIS
|
19 / 7739
|
46
|
(HPO:0100704)
|
Cortical visual impairment |
|
|
25112391
|
IBIS
|
28 / 7739
|
47
|
(HPO:0002167)
|
Neurological speech impairment |
|
|
25112391
|
IBIS
|
308 / 7739
|
48
|
(HPO:0001251)
|
Ataxia |
|
|
25112391
|
IBIS
|
413 / 7739
|
49
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
25112391; 23622405
|
IBIS
|
153 / 7739
|
50
|
(HPO:0001254)
|
Lethargy |
|
|
25112391
|
IBIS
|
104 / 7739
|
51
|
(HPO:0002013)
|
Vomiting |
|
|
25112391
|
IBIS
|
191 / 7739
|
52
|
(HPO:0003808)
|
Abnormal muscle tone |
|
|
25112391
|
IBIS
|
3 / 7739
|
53
|
(HPO:0000737)
|
Irritability |
|
|
25112391
|
IBIS
|
93 / 7739
|
54
|
(HPO:0100247)
|
Recurrent singultus |
|
|
25112391
|
IBIS
|
7 / 7739
|
55
|
(HPO:0005949)
|
Apneic episodes in infancy |
|
|
25112391
|
IBIS
|
5 / 7739
|
56
|
(HPO:0001259)
|
Coma |
|
|
25112391
|
IBIS
|
65 / 7739
|
57
|
(HPO:0002181)
|
Cerebral edema |
|
|
25112391
|
IBIS
|
19 / 7739
|
58
|
(HPO:0011097)
|
Epileptic spasms |
|
|
25112391
|
IBIS
|
45 / 7739
|
59
|
(HPO:0100710)
|
Impulsivity |
|
|
25112391
|
IBIS
|
16 / 7739
|
60
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
25112391
|
IBIS
|
116 / 7739
|
61
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
25112391
|
IBIS
|
76 / 7739
|
62
|
(HPO:0012469)
|
Infantile spasms |
|
|
25112391
|
IBIS
|
18 / 7739
|
63
|
(HPO:0002133)
|
Status epilepticus |
|
|
25112391
|
IBIS
|
59 / 7739
|
64
|
(HPO:0000733)
|
Stereotypy |
|
|
25112391; 23622405
|
IBIS
|
58 / 7739
|
65
|
(HPO:0000713)
|
Agitation |
|
|
25112391; 23622405
|
IBIS
|
18 / 7739
|
66
|
(HPO:0100716)
|
Self-injurious behavior |
|
|
25112391; 23622405
|
IBIS
|
43 / 7739
|
67
|
(HPO:0000273)
|
Facial grimacing |
|
|
25112391
|
IBIS
|
6 / 7739
|
68
|
(HPO:0012172)
|
Stereotypical body rocking |
|
|
25112391
|
IBIS
|
1 / 7739
|
69
|
(HPO:0100024)
|
Conspicuously happy disposition |
|
|
25112391
|
IBIS
|
5 / 7739
|
70
|
(HPO:0000736)
|
Short attention span |
|
|
25112391
|
IBIS
|
16 / 7739
|
71
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
25112391
|
IBIS
|
169 / 7739
|
72
|
(HPO:0005469)
|
Flat occiput |
|
|
25112391
|
IBIS
|
30 / 7739
|
73
|
(HPO:0000687)
|
Widely spaced teeth |
|
|
25112391
|
IBIS
|
40 / 7739
|
74
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
25112391
|
IBIS
|
179 / 7739
|
75
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
25112391
|
IBIS
|
77 / 7739
|
76
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
25112391; 23622405
|
IBIS
|
51 / 7739
|
77
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
25112391
|
IBIS
|
187 / 7739
|
78
|
(HPO:0007371)
|
Corpus callosum atrophy |
|
|
25112391
|
IBIS
|
14 / 7739
|
79
|
(HPO:0006855)
|
Cerebellar vermis atrophy |
|
|
25112391
|
IBIS
|
8 / 7739
|
80
|
(HPO:0011400)
|
Abnormal CNS myelination |
|
|
25112391
|
IBIS
|
10 / 7739
|
81
|
(HPO:0012448)
|
Delayed myelination |
|
|
25112391
|
IBIS
|
51 / 7739
|
82
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
25112391
|
IBIS
|
73 / 7739
|
83
|
(HPO:0001339)
|
Lissencephaly |
|
|
25112391
|
IBIS
|
30 / 7739
|
84
|
(HPO:0001270)
|
Motor delay |
|
|
23622405
|
IBIS
|
322 / 7739
|
85
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
23622405
|
IBIS
|
74 / 7739
|
86
|
(MedDRA:10051139)
|
Foetal heart rate abnormal |
|
|
23622405
|
IBIS
|
2 / 7739
|