|
1
|
(HPO:0000212)
|
Gingival overgrowth |
|
|
|
|
43 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0000574)
|
Thick eyebrow |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
4
|
(HPO:0000534)
|
Abnormality of the eyebrow |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
5
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
6
|
(OMIM)
|
Amelogenesis imperfecta, hypoplastic |
|
|
|
|
5 / 7739
|
|
7
|
(HPO:0011073)
|
Abnormality of dental color |
|
|
|
|
24 / 7739
|
|
8
|
(HPO:0000706)
|
Unerupted tooth |
|
|
|
|
10 / 7739
|
|
9
|
(OMIM)
|
Coronal and radicular pulpal calcifications |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Normal kidney function |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Normal serum calcium |
|
|
|
|
9 / 7739
|
|
12
|
(HPO:0000168)
|
Abnormality of the gingiva |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
13
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
14
|
(HPO:0001031)
|
Subcutaneous lipoma |
Very frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0000169)
|
Gingival fibromatosis |
|
|
|
|
14 / 7739
|
|
17
|
(HPO:0000705)
|
Amelogenesis imperfecta |
|
|
|
|
25 / 7739
|