|
1
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
2
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
|
3
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
4
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
5
|
(HPO:0000256)
|
Macrocephaly |
frequent [HPO:skoehler]
|
|
|
|
298 / 7739
|
|
6
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
7
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
|
8
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
9
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
|
10
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
11
|
(HPO:0000396)
|
Overfolded helix |
|
|
|
|
21 / 7739
|
|
12
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
13
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
15
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
16
|
(HPO:0001266)
|
Choreoathetosis |
frequent [HPO:skoehler]
|
|
|
|
57 / 7739
|
|
17
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
|
18
|
(HPO:0001347)
|
Hyperreflexia |
frequent [HPO:skoehler]
|
|
|
|
363 / 7739
|
|
19
|
(HPO:0002267)
|
Exaggerated startle response |
|
|
|
|
42 / 7739
|
|
20
|
(HPO:0007034)
|
Generalized hyperreflexia |
|
|
|
|
33 / 7739
|
|
21
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
22
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
23
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
24
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
25
|
(HPO:0002023)
|
Anal atresia |
|
|
|
|
135 / 7739
|
|
26
|
(HPO:0002025)
|
Anal stenosis |
|
|
|
|
23 / 7739
|
|
27
|
(HPO:0002265)
|
Large fleshy ears |
|
|
|
|
5 / 7739
|
|
28
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
29
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
30
|
(OMIM)
|
Increased birth weight |
|
|
|
|
6 / 7739
|
|
31
|
(OMIM)
|
Prominent sutures |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Wandering eyes |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Upturned nares |
|
|
|
|
4 / 7739
|
|
34
|
(OMIM)
|
Persistent foramen ovale |
|
|
|
|
3 / 7739
|
|
35
|
(HPO:0000034)
|
Hydrocele testis |
|
|
|
|
18 / 7739
|
|
36
|
(HPO:0100673)
|
Vaginal hydrocele |
|
|
|
|
8 / 7739
|
|
37
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
|
38
|
(OMIM)
|
Trabecular bladder (2 of 7 patients) |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0001869)
|
Deep plantar creases |
|
|
|
|
14 / 7739
|
|
40
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
41
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
42
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
43
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
45
|
(HPO:0000076)
|
Vesicoureteral reflux |
rare [HPO:skoehler]
|
|
|
|
94 / 7739
|
|
46
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
47
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
48
|
(HPO:0000646)
|
Amblyopia |
|
|
|
|
42 / 7739
|
|
49
|
(HPO:0001272)
|
Cerebellar atrophy |
rare [HPO:skoehler]
|
|
|
|
197 / 7739
|
|
50
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|