|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000047)
|
Hypospadias |
|
|
|
|
250 / 7739
|
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
4
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
|
5
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
6
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0000851)
|
Congenital hypothyroidism |
rare [HPO:skoehler]
|
|
|
|
16 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
hallmark [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
10
|
(HPO:0001511)
|
Intrauterine growth retardation |
rare [HPO:skoehler]
|
|
|
|
358 / 7739
|
|
11
|
(HPO:0001513)
|
Obesity |
|
|
|
|
172 / 7739
|
|
12
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
13
|
(HPO:0003416)
|
Spinal canal stenosis |
|
|
|
|
28 / 7739
|
|
14
|
(HPO:0003502)
|
Mild short stature |
rare [HPO:skoehler]
|
|
|
|
19 / 7739
|
|
15
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
16
|
(HPO:0005616)
|
Accelerated skeletal maturation |
|
|
|
|
46 / 7739
|
|
17
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
18
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
19
|
(HPO:0010579)
|
Cone-shaped epiphysis |
|
|
|
|
54 / 7739
|
|
20
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
21
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
22
|
(OMIM)
|
Facial dysostosis |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Prominent mandible |
|
|
|
|
5 / 7739
|
|
24
|
(OMIM)
|
Maxillonasal hypoplasia |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0002516)
|
Increased intracranial pressure |
|
|
|
|
47 / 7739
|
|
26
|
(OMIM)
|
Intracranial thrombosis |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Acrodysostosis |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Lack of normal lumbar interpediculate flare |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Brachydactyly, severe |
|
|
|
|
4 / 7739
|
|
30
|
(OMIM)
|
Brachydactyly, severe, with sparing of the big toe |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Increased serum PTH (1 patient) |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0005990)
|
Thyroid hypoplasia |
|
|
|
|
21 / 7739
|
|
33
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
34
|
(HPO:0000635)
|
Blue irides |
|
|
|
|
25 / 7739
|
|
35
|
(HPO:0000717)
|
Autism |
|
|
|
|
108 / 7739
|
|
36
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
37
|
(HPO:0000819)
|
Diabetes mellitus |
rare [HPO:skoehler]
|
|
|
|
131 / 7739
|
|
38
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
39
|
(HPO:0002286)
|
Fair hair |
|
|
|
|
20 / 7739
|
|
40
|
(HPO:0002297)
|
Red hair |
|
|
|
|
9 / 7739
|
|
41
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|