|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000581)
|
Blepharophimosis |
rare [HPO:skoehler]
|
|
|
|
197 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
rare [HPO:skoehler]
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
6
|
(HPO:0004691)
|
2-3 toe syndactyly |
|
|
|
|
50 / 7739
|
|
7
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
|
8
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
9
|
(HPO:0010760)
|
Absent toe |
|
|
|
|
15 / 7739
|
|
10
|
(OMIM)
|
Cutis aplasia |
|
|
|
|
2 / 7739
|
|
11
|
(OMIM)
|
No defects reported |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Terminal transverse defects, asymmetric |
|
|
|
|
3 / 7739
|
|
13
|
(OMIM)
|
Shortening of the hands, asymmetric |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Reductions of the feet, asymmetric |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Aplasia cutis of scalp |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
No immune defects reported |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
18
|
(HPO:0012745)
|
Short palpebral fissure |
rare [HPO:skoehler]
|
|
|
|
47 / 7739
|