|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
3
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
|
4
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
5
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
|
8
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
9
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
10
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
|
11
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
14
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
|
15
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
16
|
(HPO:0001954)
|
Episodic fever |
|
|
|
|
27 / 7739
|
|
17
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
|
18
|
(HPO:0002179)
|
Opisthotonus |
|
|
|
|
35 / 7739
|
|
19
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
20
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
21
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
22
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
23
|
(HPO:0100729)
|
Large face |
|
|
|
|
19 / 7739
|
|
24
|
(OMIM)
|
Poor growth in infancy |
|
|
|
|
2 / 7739
|
|
25
|
(OMIM)
|
Severe contractions of the facial muscles |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Facial trismus |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Chronic keratitis |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Inability to fully close eyes during sleep |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Abundant salivation |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
31
|
(OMIM)
|
Dental caries, severe |
|
|
|
|
5 / 7739
|
|
32
|
(OMIM)
|
Neck muscle hypertonia |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Apneic spells |
|
|
|
|
3 / 7739
|
|
34
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
35
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
36
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
37
|
(HPO:0004097)
|
Deviation of finger |
|
|
|
|
13 / 7739
|
|
38
|
(HPO:0009465)
|
Ulnar deviation of finger |
|
|
|
|
48 / 7739
|
|
39
|
(OMIM)
|
Profuse sweating of the upper body induced by cold exposure |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Poor sweating in response to heat |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Generalized muscle contractions, episodic |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Tetanus-like muscle contractions |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
44
|
(OMIM)
|
Subcortical white matter abnormalities seen on MRI |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Decreased pain sensitivity |
|
|
|
|
2 / 7739
|
|
46
|
(OMIM)
|
Variable fever |
|
|
|
|
1 / 7739
|