|
1
|
(HPO:0000308)
|
Microretrognathia |
|
|
|
|
78 / 7739
|
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
3
|
(HPO:0000522)
|
Alacrima |
|
|
|
|
14 / 7739
|
|
4
|
(HPO:0000592)
|
Blue sclerae |
rare [HPO:skoehler]
|
|
|
|
85 / 7739
|
|
5
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
6
|
(HPO:0000689)
|
Dental malocclusion |
rare [HPO:skoehler]
|
|
|
|
114 / 7739
|
|
7
|
(HPO:0010807)
|
Open bite |
|
|
|
|
6 / 7739
|
|
8
|
(HPO:0001182)
|
Tapered finger |
rare [HPO:skoehler]
|
|
|
|
93 / 7739
|
|
9
|
(HPO:0002342)
|
Intellectual disability, moderate |
rare [HPO:skoehler]
|
|
|
|
37 / 7739
|
|
10
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
|
11
|
(HPO:0004467)
|
Preauricular pit |
|
|
|
|
39 / 7739
|
|
12
|
(HPO:0007678)
|
Lacrimal duct stenosis |
|
|
|
|
8 / 7739
|
|
13
|
(HPO:0000378)
|
Cupped ear |
|
|
|
|
34 / 7739
|
|
14
|
(OMIM)
|
Preauricular fistulas, bilateral |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Hearing loss, mixed conductive-sensorineural |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Protruding shoulders |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Mastoiditis, bilateral (in some patients) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Anterior scalloping, lower thoracic and lumbar vertebral bodies (in some patients) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Fusion defect at L5/S1 (in some patients) |
|
|
|
|
1 / 7739
|
|
20
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
21
|
(OMIM)
|
Cutaneous syndactyly, second and third toes (in some patients) |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Developmental delay, moderate (in some patients) |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Periventricular white matter gliosis (in some patients) |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
25
|
(HPO:0000410)
|
Mixed hearing impairment |
|
|
|
|
22 / 7739
|
|
26
|
(HPO:0030084)
|
Clinodactyly |
rare [HPO:skoehler]
|
|
|
|
90 / 7739
|