|
1
|
(HPO:0000238)
|
Hydrocephalus |
|
|
14581620
|
IBIS
|
278 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
14581620
|
IBIS
|
832 / 7739
|
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
14581620
|
IBIS
|
277 / 7739
|
|
4
|
(HPO:0000322)
|
Short philtrum |
|
|
17096318
|
IBIS
|
130 / 7739
|
|
5
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
6
|
(HPO:0000400)
|
Macrotia |
|
|
17096318
|
IBIS
|
108 / 7739
|
|
7
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
8
|
(HPO:0000689)
|
Dental malocclusion |
|
|
17096318
|
IBIS
|
114 / 7739
|
|
9
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
14581620
|
IBIS
|
56 / 7739
|
|
10
|
(HPO:0000871)
|
Panhypopituitarism |
|
|
14581620
|
IBIS
|
8 / 7739
|
|
11
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
14581620
|
IBIS
|
119 / 7739
|
|
12
|
(HPO:0001338)
|
Partial agenesis of the corpus callosum |
|
|
14581620
|
IBIS
|
22 / 7739
|
|
13
|
(HPO:0002536)
|
Abnormal cortical gyration |
|
|
17096318
|
IBIS
|
72 / 7739
|
|
14
|
(HPO:0002744)
|
Bilateral cleft lip and palate |
|
|
|
|
7 / 7739
|
|
15
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
17096318
|
IBIS
|
381 / 7739
|
|
16
|
(HPO:0006315)
|
Single median maxillary incisor |
|
|
14581620
|
IBIS
|
13 / 7739
|
|
17
|
(HPO:0006485)
|
Agenesis of incisor |
|
|
14581620
|
IBIS
|
1 / 7739
|
|
18
|
(HPO:0009932)
|
Single naris |
|
|
14581620
|
IBIS
|
10 / 7739
|
|
19
|
(HPO:0010290)
|
Short hard palate |
|
|
14581620
|
IBIS
|
5 / 7739
|
|
20
|
(HPO:0010626)
|
Anterior pituitary agenesis |
|
|
14581620
|
IBIS
|
2 / 7739
|
|
21
|
(HPO:0010627)
|
Anterior pituitary hypoplasia |
|
|
14581620
|
IBIS
|
6 / 7739
|
|
22
|
(HPO:0010650)
|
Hypoplasia of the premaxilla |
|
|
17096318
|
IBIS
|
39 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
24
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
25
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
26
|
(HPO:0000395)
|
Prominent antihelix |
|
|
|
|
6 / 7739
|
|
27
|
(HPO:0000528)
|
Anophthalmia |
|
|
|
|
42 / 7739
|
|
28
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
29
|
(HPO:0000609)
|
Optic nerve hypoplasia |
|
|
|
|
26 / 7739
|
|
30
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
31
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
32
|
(HPO:0001360)
|
Holoprosencephaly |
|
|
|
|
29 / 7739
|
|
33
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|
|
34
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
35
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|
|
36
|
(HPO:0004322)
|
Short stature |
rare [HPO:skoehler]
|
|
|
|
1232 / 7739
|
|
37
|
(HPO:0011272)
|
Underdeveloped tragus |
|
|
|
|
2 / 7739
|
|
38
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|