|
1
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0004760)
|
Congenital septal defect |
Very frequent [Orphanet]
|
|
|
|
69 / 7739
|
|
3
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
4
|
(HPO:0001545)
|
Anteriorly placed anus |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
5
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
6
|
(HPO:0002023)
|
Anal atresia |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
|
7
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
8
|
(HPO:0000445)
|
Wide nose |
Frequent [Orphanet]
|
|
|
|
190 / 7739
|
|
9
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
10
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
11
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
12
|
(HPO:0002997)
|
Abnormality of the ulna |
Frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
13
|
(HPO:0003022)
|
Hypoplasia of the ulna |
|
|
|
|
40 / 7739
|
|
14
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Frequent [Orphanet]
|
|
|
|
185 / 7739
|
|
15
|
(HPO:0000598)
|
Abnormality of the ear |
Frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
16
|
(HPO:0001636)
|
Tetralogy of Fallot |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
17
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
18
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
19
|
(HPO:0003974)
|
Absent radius |
|
|
|
|
26 / 7739
|
|
20
|
(HPO:0000076)
|
Vesicoureteral reflux |
|
|
|
|
94 / 7739
|
|
21
|
(HPO:0000079)
|
Abnormality of the urinary system |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
22
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
|
23
|
(HPO:0001107)
|
Ocular albinism |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
24
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
25
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
26
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
27
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
28
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
29
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
30
|
(HPO:0006695)
|
Atrioventricular canal defect |
|
|
|
|
27 / 7739
|
|
31
|
(HPO:0008056)
|
Aplasia/Hypoplasia affecting the eye |
Frequent [Orphanet]
|
|
|
|
142 / 7739
|
|
32
|
(HPO:0010035)
|
Aplasia of the 1st metacarpal |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0011266)
|
Microtia, first degree |
|
|
|
|
4 / 7739
|
|
34
|
(OMIM)
|
Small, simple ears |
|
|
|
|
2 / 7739
|
|
35
|
(HPO:0000277)
|
Abnormality of the mandible |
Frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
36
|
(HPO:0008772)
|
Aplasia/Hypoplasia of the external ear |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
37
|
(HPO:0009466)
|
Radial deviation of finger |
Frequent [Orphanet]
|
|
|
|
101 / 7739
|
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|