|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
20358602
|
IBIS
|
832 / 7739
|
|
2
|
(HPO:0000319)
|
Smooth philtrum |
|
|
22106055
|
IBIS
|
72 / 7739
|
|
3
|
(HPO:0000664)
|
Synophrys |
|
|
22106055
|
IBIS
|
112 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
20358602
|
IBIS
|
1089 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
20358602
|
IBIS
|
358 / 7739
|
|
7
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
22106055
|
IBIS
|
92 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
|
|
20358602
|
IBIS
|
1232 / 7739
|
|
9
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
10
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
11
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
12
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
|
13
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
|
14
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
15
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
16
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
17
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
18
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
19
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
20
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
|
21
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
|
22
|
(HPO:0000965)
|
Cutis marmorata |
|
|
|
|
46 / 7739
|
|
23
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
24
|
(HPO:0001156)
|
Brachydactyly syndrome |
|
|
|
|
180 / 7739
|
|
25
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
26
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
27
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
rare [HPO:skoehler]
|
|
|
|
137 / 7739
|
|
28
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
|
29
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
30
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
31
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
|
32
|
(HPO:0002714)
|
Downturned corners of mouth |
|
|
|
|
98 / 7739
|
|
33
|
(HPO:0002996)
|
Limited elbow movement |
|
|
|
|
16 / 7739
|
|
34
|
(HPO:0009623)
|
Proximal placement of thumb |
|
|
|
|
50 / 7739
|
|
35
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|
|
36
|
(HPO:0100543)
|
Cognitive impairment |
|
|
|
|
230 / 7739
|
|
37
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|