|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
4
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
5
|
(HPO:0000307)
|
Pointed chin |
|
|
|
|
45 / 7739
|
|
6
|
(HPO:0000388)
|
Otitis media |
|
|
|
|
28 / 7739
|
|
7
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
8
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
9
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
10
|
(HPO:0000540)
|
Hypermetropia |
|
|
|
|
99 / 7739
|
|
11
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
12
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
|
|
212 / 7739
|
|
13
|
(HPO:0001176)
|
Large hands |
|
|
|
|
43 / 7739
|
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
15
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
16
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
17
|
(HPO:0001338)
|
Partial agenesis of the corpus callosum |
|
|
|
|
22 / 7739
|
|
18
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
19
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
20
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
21
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
22
|
(HPO:0001643)
|
Patent ductus arteriosus |
|
|
|
|
228 / 7739
|
|
23
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
24
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
25
|
(HPO:0002280)
|
Enlarged cisterna magna |
|
|
|
|
12 / 7739
|
|
26
|
(HPO:0002370)
|
Poor coordination |
|
|
|
|
15 / 7739
|
|
27
|
(HPO:0002389)
|
Cavum septum pellucidum |
|
|
|
|
13 / 7739
|
|
28
|
(HPO:0002474)
|
Expressive language delay |
|
|
|
|
8 / 7739
|
|
29
|
(HPO:0002667)
|
Nephroblastoma |
|
|
|
|
30 / 7739
|
|
30
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
31
|
(HPO:0005616)
|
Accelerated skeletal maturation |
|
|
|
|
46 / 7739
|
|
32
|
(HPO:0006288)
|
Advanced eruption of teeth |
|
|
|
|
5 / 7739
|
|
33
|
(OMIM)
|
Mean full term birth length 55.2cm |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Length at or greater than 97th percentile through early adolescence |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Adult height often normal |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Mean male adult height 184.3cm |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Mean female adult height 172.9cm |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Mean full term birth weight 3.9kg |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Birth length often more increased than weight |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Tooth agenesis, first and second premolars |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Long arm span |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Disharmonic maturation of phalanges and carpal bones |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Large feet |
|
|
|
|
12 / 7739
|
|
44
|
(OMIM)
|
Thin brittle fingernails |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Sparse hair in frontoparietal area |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Mental retardation, variable |
|
|
|
|
7 / 7739
|
|
47
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
48
|
(OMIM)
|
Prominent trigone and occipital horns |
|
|
|
|
1 / 7739
|