|
1
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
2
|
(HPO:0000998)
|
Hypertrichosis |
|
|
|
|
52 / 7739
|
|
3
|
(HPO:0001009)
|
Telangiectasia |
|
|
|
|
46 / 7739
|
|
4
|
(HPO:0100585)
|
Telangiectasia of the skin |
Occasional [Orphanet]
|
|
|
|
66 / 7739
|
|
5
|
(HPO:0000405)
|
Conductive hearing impairment |
Occasional [Orphanet]
|
|
|
|
164 / 7739
|
|
6
|
(HPO:0000682)
|
Abnormality of dental enamel |
Occasional [Orphanet]
|
|
|
|
102 / 7739
|
|
7
|
(HPO:0000169)
|
Gingival fibromatosis |
|
|
|
|
14 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
Very frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0000293)
|
Full cheeks |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
10
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
|
11
|
(HPO:0000962)
|
Hyperkeratosis |
Occasional [Orphanet]
|
|
|
|
216 / 7739
|
|
12
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
|
13
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
14
|
(HPO:0002797)
|
Osteolysis |
Very frequent [Orphanet]
|
|
|
|
68 / 7739
|
|
15
|
(HPO:0000819)
|
Diabetes mellitus |
Occasional [Orphanet]
|
|
|
|
131 / 7739
|
|
16
|
(HPO:0000510)
|
Rod-cone dystrophy |
Frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
18
|
(HPO:0000593)
|
Abnormality of the anterior chamber |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
|
19
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
20
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
21
|
(HPO:0000543)
|
Optic disc pallor |
|
|
|
|
67 / 7739
|
|
22
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|
|
23
|
(HPO:0001014)
|
Angiokeratoma |
|
|
|
|
5 / 7739
|
|
24
|
(HPO:0001492)
|
Axenfeld anomaly |
|
|
|
|
6 / 7739
|
|
25
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
26
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
27
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
28
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
29
|
(HPO:0005681)
|
Juvenile rheumatoid arthritis |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0008694)
|
Hypertrophic labia minora |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Cherubism (fibrous dysplasia of maxillae and mandible) |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Gingival biopsy shows hyperkeratosis, acanthosis, papillomatosis |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0000168)
|
Abnormality of the gingiva |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
34
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
35
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
36
|
(HPO:0011362)
|
Abnormal hair quantity |
Frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
37
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|