1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
2
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
3
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
4
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
5
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
6
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
7
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
8
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
9
|
(HPO:0000445)
|
Wide nose |
|
|
|
|
190 / 7739
|
10
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
11
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
12
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
13
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
14
|
(HPO:0001181)
|
Adducted thumb |
|
|
|
|
31 / 7739
|
15
|
(HPO:0001182)
|
Tapered finger |
|
|
|
|
93 / 7739
|
16
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
17
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
18
|
(HPO:0001377)
|
Limited elbow extension |
|
|
|
|
38 / 7739
|
19
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
20
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
21
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
22
|
(HPO:0001954)
|
Episodic fever |
|
|
|
|
27 / 7739
|
23
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
24
|
(HPO:0002179)
|
Opisthotonus |
|
|
|
|
35 / 7739
|
25
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
26
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
27
|
(HPO:0004279)
|
Short palm |
|
|
|
|
323 / 7739
|
28
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
29
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
30
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
31
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
32
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
33
|
(HPO:0100729)
|
Large face |
|
|
|
|
19 / 7739
|