1
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
2
|
(HPO:0000110)
|
Renal dysplasia |
|
|
|
|
44 / 7739
|
3
|
(HPO:0000161)
|
Median cleft lip |
|
|
|
|
27 / 7739
|
4
|
(HPO:0000171)
|
Microglossia |
|
|
|
|
27 / 7739
|
5
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
6
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
7
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
8
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
9
|
(HPO:0000773)
|
Short ribs |
|
|
|
|
70 / 7739
|
10
|
(HPO:0000830)
|
Anterior hypopituitarism |
|
|
|
|
9 / 7739
|
11
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
12
|
(HPO:0002085)
|
Occipital encephalocele |
|
|
|
|
20 / 7739
|
13
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
14
|
(HPO:0002444)
|
Hypothalamic hamartoma |
|
|
|
|
5 / 7739
|
15
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
16
|
(HPO:0002652)
|
Skeletal dysplasia |
|
|
|
|
113 / 7739
|
17
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
18
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
19
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
20
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
21
|
(HPO:0009733)
|
Glioma |
|
|
|
|
8 / 7739
|
22
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
23
|
(MedDRA:10006143)
|
Brain stem glioma |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Alveolar frenula |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Abnormal auricles |
|
|
|
|
4 / 7739
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
27
|
(HPO:0001522)
|
Death in infancy |
Typical [HPO:probinson]
|
|
|
|
275 / 7739
|
28
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|