|
1
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000171)
|
Microglossia |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
3
|
(HPO:0002991)
|
Abnormality of the fibula |
Very frequent [Orphanet]
|
|
|
|
49 / 7739
|
|
4
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
|
5
|
(HPO:0001852)
|
Sandal gap |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
6
|
(HPO:0009486)
|
Radial deviation of the hand |
Very frequent [Orphanet]
|
|
|
|
13 / 7739
|
|
7
|
(HPO:0000954)
|
Single transverse palmar crease |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
8
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
9
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
10
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
11
|
(HPO:0002992)
|
Abnormality of the tibia |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
12
|
(HPO:0004383)
|
Hypoplastic left heart |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
13
|
(HPO:0002997)
|
Abnormality of the ulna |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
14
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
|
15
|
(HPO:0001643)
|
Patent ductus arteriosus |
Frequent [Orphanet]
|
|
|
|
228 / 7739
|
|
16
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
17
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
|
18
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Very frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
19
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
20
|
(HPO:0001883)
|
Talipes |
|
|
|
|
12 / 7739
|
|
21
|
(HPO:0009237)
|
Short 5th finger |
|
|
|
|
16 / 7739
|
|
22
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
|
23
|
(OMIM)
|
Congenital heart malformation |
|
|
|
|
3 / 7739
|
|
24
|
(OMIM)
|
Hypoplasia of fingers I and V |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Tibial hypoplasia |
|
|
|
|
3 / 7739
|
|
26
|
(OMIM)
|
Wide space between toes I and II |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0011420)
|
Death |
Very frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
28
|
(HPO:0012303)
|
Abnormality of the aortic arch |
Frequent [Orphanet]
|
|
|
|
57 / 7739
|
|
29
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
30
|
(HPO:0001167)
|
Abnormality of finger |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
31
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
32
|
(HPO:0003811)
|
Neonatal death |
|
|
|
|
44 / 7739
|
|
33
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|