|
1
|
(HPO:0000160)
|
Narrow mouth |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
3
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [Orphanet]
|
|
|
|
164 / 7739
|
|
4
|
(HPO:0000545)
|
Myopia |
Frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
5
|
(HPO:0000089)
|
Renal hypoplasia |
|
|
|
|
78 / 7739
|
|
6
|
(HPO:0000691)
|
Microdontia |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
7
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
8
|
(HPO:0002997)
|
Abnormality of the ulna |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
|
9
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
Very frequent [Orphanet]
rare [HPO:skoehler]
|
|
|
|
129 / 7739
|
|
10
|
(HPO:0009117)
|
Aplasia/Hypoplasia of the maxilla |
|
|
|
|
18 / 7739
|
|
11
|
(HPO:0000093)
|
Proteinuria |
Frequent [Orphanet]
|
|
|
|
169 / 7739
|
|
12
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
13
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
14
|
(HPO:0000256)
|
Macrocephaly |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
15
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Occasional [Orphanet]
|
|
|
|
40 / 7739
|
|
16
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
17
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
18
|
(HPO:0003019)
|
Abnormality of the wrist |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
19
|
(HPO:0001839)
|
Split foot |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
|
20
|
(HPO:0010760)
|
Absent toe |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
21
|
(HPO:0003028)
|
Abnormality of the ankles |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
22
|
(HPO:0000426)
|
Prominent nasal bridge |
Occasional [Orphanet]
|
|
|
|
121 / 7739
|
|
23
|
(HPO:0000171)
|
Microglossia |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
24
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
25
|
(HPO:0000083)
|
Renal insufficiency |
Frequent [Orphanet]
|
|
|
|
232 / 7739
|
|
26
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
|
27
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
28
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
29
|
(HPO:0000308)
|
Microretrognathia |
|
|
|
|
78 / 7739
|
|
30
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
31
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
32
|
(HPO:0001807)
|
Ridged nail |
|
|
|
|
20 / 7739
|
|
33
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
34
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Frequent [Orphanet]
|
|
|
|
127 / 7739
|
|
35
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
36
|
(OMIM)
|
Hearing loss, conductive or mixed |
|
|
|
|
2 / 7739
|
|
37
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
|
38
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
39
|
(HPO:0000357)
|
Abnormal location of ears |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
40
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
41
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
42
|
(HPO:0001428)
|
Somatic mutation |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
43
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
45
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|