|
1
|
(HPO:0000057)
|
Clitoromegaly |
|
|
15114530
|
IBIS
|
30 / 7739
|
|
2
|
(HPO:0000063)
|
Fused labia minora |
|
|
15114530
|
IBIS
|
3 / 7739
|
|
3
|
(HPO:0000154)
|
Wide mouth |
|
|
15114530
|
IBIS
|
137 / 7739
|
|
4
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
15114530
|
IBIS
|
112 / 7739
|
|
5
|
(HPO:0000248)
|
Brachycephaly |
|
|
15114530
|
IBIS
|
222 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
15114530
|
IBIS
|
372 / 7739
|
|
7
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
15114530
|
IBIS
|
121 / 7739
|
|
8
|
(HPO:0000463)
|
Anteverted nares |
|
|
15114530
|
IBIS
|
305 / 7739
|
|
9
|
(HPO:0000648)
|
Optic atrophy |
|
|
15114530
|
IBIS
|
238 / 7739
|
|
10
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
15114530
|
IBIS
|
147 / 7739
|
|
11
|
(HPO:0001250)
|
Seizures |
|
|
15114530
|
IBIS
|
1245 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
15114530
|
IBIS
|
990 / 7739
|
|
13
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
15114530
|
IBIS
|
328 / 7739
|
|
14
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
15114530
|
IBIS
|
44 / 7739
|
|
15
|
(HPO:0007875)
|
Congenital blindness |
|
|
15114530
|
IBIS
|
9 / 7739
|
|
16
|
(HPO:0011220)
|
Prominent forehead |
|
|
15114530
|
IBIS
|
137 / 7739
|
|
17
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
15114530
|
IBIS
|
482 / 7739
|
|
18
|
(OMIM)
|
Positive urinary Bratton-Marshall test |
|
|
15114530
|
IBIS
|
1 / 7739
|
|
19
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
15114530
|
IBIS
|
169 / 7739
|
|
20
|
(HPO:0005487)
|
Prominent metopic ridge |
|
|
15114530
|
IBIS
|
28 / 7739
|
|
21
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
15114530
|
IBIS
|
101 / 7739
|
|
22
|
(HPO:0001998)
|
Neonatal hypoglycemia |
|
|
15114530
|
IBIS
|
22 / 7739
|
|
23
|
(HPO:0002902)
|
Hyponatremia |
|
|
15114530
|
IBIS
|
37 / 7739
|
|
24
|
(HPO:0030148)
|
Heart murmur |
|
|
15114530
|
IBIS
|
29 / 7739
|
|
25
|
(HPO:0001684)
|
Secundum atrial septal defect |
|
|
15114530
|
IBIS
|
14 / 7739
|
|
26
|
(HPO:0001263)
|
Global developmental delay |
|
|
15114530
|
IBIS
|
853 / 7739
|
|
27
|
(HPO:0011165)
|
Visual auras |
|
|
15114530
|
IBIS
|
3 / 7739
|
|
28
|
(HPO:0010781)
|
Skin dimples |
|
|
15114530
|
IBIS
|
5 / 7739
|
|
29
|
(HPO:0007661)
|
Abnormality of chorioretinal pigmentation |
|
|
15114530
|
IBIS
|
2 / 7739
|
|
30
|
(HPO:0000512)
|
Abnormal electroretinogram |
|
|
15114530
|
IBIS
|
61 / 7739
|
|
31
|
(HPO:0000649)
|
Abnormality of visual evoked potentials |
|
|
15114530
|
IBIS
|
34 / 7739
|
|
32
|
(HPO:0000565)
|
Esotropia |
|
|
15114530
|
IBIS
|
58 / 7739
|