1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
2
|
(HPO:0000112)
|
Nephropathy |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
3
|
(HPO:0001539)
|
Omphalocele |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
4
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
5
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
6/20 [HPO]
|
|
1671808
|
IBIS
|
191 / 7739
|
6
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
7
|
(HPO:0001339)
|
Lissencephaly |
27/27 [HPO]
|
|
1671808
|
IBIS
|
30 / 7739
|
8
|
(HPO:0002536)
|
Abnormal cortical gyration |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
9
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
10/24 [HPO]
|
|
1671808
|
IBIS
|
288 / 7739
|
10
|
(HPO:0000153)
|
Abnormality of the mouth |
Very frequent [Orphanet]
|
|
|
|
60 / 7739
|
11
|
(HPO:0000463)
|
Anteverted nares |
Very frequent [Orphanet]
|
|
|
|
305 / 7739
|
12
|
(HPO:0010769)
|
Pilonidal sinus |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
13
|
(HPO:0003196)
|
Short nose |
Very frequent [Orphanet]
26/26 [HPO]
|
|
1671808
|
IBIS
|
264 / 7739
|
14
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
17/23 [HPO]
|
|
1671808
|
IBIS
|
161 / 7739
|
15
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
16
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
17
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
18
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
8/22 [HPO]
|
|
1671808
|
IBIS
|
371 / 7739
|
19
|
(HPO:0002353)
|
EEG abnormality |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
20
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
21
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
22
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
23
|
(HPO:0000125)
|
Pelvic kidney |
|
|
|
|
10 / 7739
|
24
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
25
|
(HPO:0000215)
|
Thick upper lip vermilion |
25/25 [HPO]
|
|
1671808
|
IBIS
|
17 / 7739
|
26
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
27
|
(HPO:0000252)
|
Microcephaly |
17/25 [HPO]
|
|
1671808
|
IBIS
|
832 / 7739
|
28
|
(HPO:0000347)
|
Micrognathia |
26/27 [HPO]
|
|
1671808
|
IBIS
|
426 / 7739
|
29
|
(HPO:0000358)
|
Posteriorly rotated ears |
hallmark [HPO]
|
|
12621583
|
IBIS
|
163 / 7739
|
30
|
(HPO:0000369)
|
Low-set ears |
14/27 [HPO]
|
|
1671808
|
IBIS
|
372 / 7739
|
31
|
(HPO:0000431)
|
Wide nasal bridge |
24/25 [HPO]
|
|
1671808
|
IBIS
|
290 / 7739
|
32
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
33
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
34
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
35
|
(HPO:0000954)
|
Single transverse palmar crease |
5/24 [HPO]
|
|
1671808
|
IBIS
|
162 / 7739
|
36
|
(HPO:0001249)
|
Intellectual disability |
obligate [HPO]
|
|
|
|
1089 / 7739
|
37
|
(HPO:0001270)
|
Motor delay |
obligate [HPO]
|
|
|
|
322 / 7739
|
38
|
(HPO:0001511)
|
Intrauterine growth retardation |
8/22 [HPO]
|
|
1671808
|
IBIS
|
358 / 7739
|
39
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
40
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
Frequent [Orphanet]
|
|
|
|
73 / 7739
|
41
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
42
|
(HPO:0002007)
|
Frontal bossing |
hallmark [HPO]
|
|
12621583
|
IBIS
|
366 / 7739
|
43
|
(HPO:0002100)
|
Recurrent aspiration pneumonia |
|
|
|
|
6 / 7739
|
44
|
(HPO:0002247)
|
Duodenal atresia |
|
|
|
|
13 / 7739
|
45
|
(HPO:0002282)
|
Heterotopia |
|
|
|
|
21 / 7739
|
46
|
(HPO:0002389)
|
Cavum septum pellucidum |
17/22 [HPO]
|
|
1671808
|
IBIS
|
13 / 7739
|
47
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
48
|
(HPO:0006191)
|
Deep palmar crease |
14/21 [HPO]
|
|
1671808
|
IBIS
|
16 / 7739
|
49
|
(HPO:0007020)
|
Progressive spastic paraplegia |
|
|
|
|
5 / 7739
|
50
|
(HPO:0007045)
|
Midline brain calcifications |
13/24 [HPO]
|
|
1671808
|
IBIS
|
1 / 7739
|
51
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
52
|
(HPO:0009473)
|
Joint contracture of the hand |
6/27 [HPO]
|
|
1671808
|
IBIS
|
84 / 7739
|
53
|
(HPO:0010442)
|
Polydactyly |
|
|
|
|
69 / 7739
|
54
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
55
|
(HPO:0012469)
|
Infantile spasms |
|
|
|
|
18 / 7739
|
56
|
(OMIM)
|
Bitemporal hollowing |
|
|
|
|
1 / 7739
|
57
|
(OMIM)
|
Furrowing of forehead |
|
|
|
|
1 / 7739
|
58
|
(OMIM)
|
Upturned nares |
|
|
|
|
4 / 7739
|
59
|
(HPO:0011951)
|
Aspiration pneumonia |
|
|
|
|
6 / 7739
|
60
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
61
|
(HPO:0000800)
|
Cystic renal dysplasia |
|
|
|
|
31 / 7739
|
62
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
63
|
(OMIM)
|
Hypertonia late |
|
|
|
|
3 / 7739
|
64
|
(MedDRA:10073345)
|
Decorticate posture |
|
|
|
|
1 / 7739
|
65
|
(MedDRA:10073346)
|
Decerebrate posture |
|
|
|
|
2 / 7739
|
66
|
(OMIM)
|
Failure of opercularization of the frontal and temporal lobes on CT |
|
|
|
|
1 / 7739
|
67
|
(OMIM)
|
Cytogenetic deletion of chromosome 17p13.3 |
|
|
|
|
1 / 7739
|
68
|
(OMIM)
|
Fluorescence in situ hybridization specific probe for MDS critical region |
|
|
|
|
1 / 7739
|
69
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
70
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
71
|
(HPO:0000960)
|
Sacral dimple |
14/19 [HPO]
|
|
|
|
29 / 7739
|
72
|
(HPO:0001466)
|
Contiguous gene syndrome |
|
|
|
|
8 / 7739
|
73
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
6/27 [HPO]
|
|
|
|
355 / 7739
|