|
1
|
(HPO:0009830)
|
Peripheral neuropathy |
Occasional [Orphanet]
|
|
|
|
206 / 7739
|
|
2
|
(HPO:0000311)
|
Round face |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
3
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
4
|
(HPO:0000956)
|
Acanthosis nigricans |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
Occasional [Orphanet]
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001315)
|
Reduced tendon reflexes |
Occasional [Orphanet]
|
|
|
|
160 / 7739
|
|
7
|
(HPO:0008388)
|
Abnormality of the toenails |
Very frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
8
|
(HPO:0001820)
|
Leukonychia |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
9
|
(HPO:0011675)
|
Arrhythmia |
Frequent [Orphanet]
|
|
|
|
226 / 7739
|
|
10
|
(HPO:0000819)
|
Diabetes mellitus |
Very frequent [Orphanet]
|
|
|
|
131 / 7739
|
|
11
|
(HPO:0003777)
|
Pili torti |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
12
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
13
|
(HPO:0008064)
|
Ichthyosis |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
|
14
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
|
15
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
|
|
102 / 7739
|
|
16
|
(HPO:0000786)
|
Primary amenorrhea |
Frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
17
|
(HPO:0000349)
|
Widow's peak |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
|
18
|
(HPO:0004322)
|
Short stature |
Frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
19
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
20
|
(HPO:0002514)
|
Cerebral calcification |
Occasional [Orphanet]
|
|
|
|
89 / 7739
|
|
21
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
22
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
23
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
24
|
(HPO:0000679)
|
Taurodontia |
Very frequent [Orphanet]
|
|
|
|
27 / 7739
|
|
25
|
(HPO:0001176)
|
Large hands |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
26
|
(HPO:0002750)
|
Delayed skeletal maturation |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
27
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
28
|
(HPO:0000705)
|
Amelogenesis imperfecta |
|
|
|
|
25 / 7739
|
|
29
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
30
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
31
|
(OMIM)
|
Normal primary teeth |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Beau's lines (fingernails and toenails) |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Punctate leukonychia |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
35
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
36
|
(HPO:0003474)
|
Sensory impairment |
Occasional [Orphanet]
|
|
|
|
54 / 7739
|
|
37
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
38
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
39
|
(HPO:0007754)
|
Macular dystrophy |
rare [HPO:skoehler]
|
|
|
|
26 / 7739
|