|
1
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
|
2
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
3
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
4
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
5
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
6
|
(HPO:0001090)
|
Large eyes |
|
|
|
|
20 / 7739
|
|
7
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0002373)
|
Febrile seizures |
rare [HPO:skoehler]
|
|
|
|
37 / 7739
|
|
11
|
(HPO:0005328)
|
Progeroid facial appearance |
|
|
|
|
13 / 7739
|
|
12
|
(HPO:0009064)
|
Generalized lipodystrophy |
|
|
|
|
17 / 7739
|
|
13
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
14
|
(OMIM)
|
Normal growth parameters at birth |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Poor growth, postnatal |
|
|
|
|
8 / 7739
|
|
16
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
17
|
(OMIM)
|
Tightly adherent facial skin |
|
|
|
|
1 / 7739
|
|
18
|
(MedDRA:10026863)
|
Masked facies |
|
|
|
|
8 / 7739
|
|
19
|
(OMIM)
|
Large prominent eyes |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Small, pinched nose |
|
|
|
|
3 / 7739
|
|
21
|
(HPO:0010804)
|
Tented upper lip vermilion |
|
|
|
|
47 / 7739
|
|
22
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
23
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
|
|
29 / 7739
|
|
24
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
25
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
26
|
(HPO:0007485)
|
Absence of subcutaneous fat |
|
|
|
|
6 / 7739
|