|
1
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
3
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
4
|
(HPO:0003220)
|
Abnormality of chromosome stability |
|
|
|
|
98 / 7739
|
|
5
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
6
|
(HPO:0000054)
|
Micropenis |
rare [HPO:skoehler]
|
|
|
|
257 / 7739
|
|
7
|
(HPO:0000089)
|
Renal hypoplasia |
rare [HPO:skoehler]
|
|
|
|
78 / 7739
|
|
8
|
(HPO:0000175)
|
Cleft palate |
rare [HPO:skoehler]
|
|
|
|
349 / 7739
|
|
9
|
(HPO:0000238)
|
Hydrocephalus |
rare [HPO:skoehler]
|
|
|
|
278 / 7739
|
|
10
|
(HPO:0000316)
|
Hypertelorism |
rare [HPO:skoehler]
|
|
|
|
644 / 7739
|
|
11
|
(HPO:0000431)
|
Wide nasal bridge |
rare [HPO:skoehler]
|
|
|
|
290 / 7739
|
|
12
|
(HPO:0000470)
|
Short neck |
rare [HPO:skoehler]
|
|
|
|
345 / 7739
|
|
13
|
(HPO:0000568)
|
Microphthalmia |
rare [HPO:skoehler]
|
|
|
|
183 / 7739
|
|
14
|
(HPO:0001511)
|
Intrauterine growth retardation |
rare [HPO:skoehler]
|
|
|
|
358 / 7739
|
|
15
|
(HPO:0001999)
|
Abnormal facial shape |
rare [HPO:skoehler]
|
|
|
|
169 / 7739
|
|
16
|
(HPO:0002023)
|
Anal atresia |
rare [HPO:skoehler]
|
|
|
|
135 / 7739
|
|
17
|
(HPO:0002032)
|
Esophageal atresia |
rare [HPO:skoehler]
|
|
|
|
19 / 7739
|
|
18
|
(HPO:0002575)
|
Tracheoesophageal fistula |
rare [HPO:skoehler]
|
|
|
|
54 / 7739
|
|
19
|
(HPO:0005280)
|
Depressed nasal bridge |
rare [HPO:skoehler]
|
|
|
|
381 / 7739
|
|
20
|
(HPO:0005528)
|
Bone marrow hypocellularity |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
|
21
|
(HPO:0008551)
|
Microtia |
rare [HPO:skoehler]
|
|
|
|
98 / 7739
|
|
22
|
(HPO:0009777)
|
Absent thumb |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|