|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
2/2 [HPO:probinson]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
4
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
5
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
|
6
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
7
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
8
|
(HPO:0000938)
|
Osteopenia |
2/2 [HPO:probinson]
|
|
|
|
138 / 7739
|
|
9
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
10
|
(HPO:0001518)
|
Small for gestational age |
2/2 [HPO:probinson]
|
|
|
|
107 / 7739
|
|
11
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
12
|
(HPO:0001883)
|
Talipes |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
14
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
15
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
16
|
(HPO:0003510)
|
Severe short stature |
2/2 [HPO:probinson]
|
|
|
|
90 / 7739
|
|
17
|
(HPO:0004823)
|
Anisopoikilocytosis |
|
|
|
|
4 / 7739
|
|
18
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
19
|
(HPO:0005590)
|
Spotty hypopigmentation |
|
|
|
|
10 / 7739
|
|
20
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
|
21
|
(HPO:0011927)
|
Short digit |
|
|
|
|
17 / 7739
|
|
22
|
(HPO:0012736)
|
Profound global developmental delay |
|
|
|
|
3 / 7739
|