|
1
|
(HPO:0000446)
|
Narrow nasal bridge |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
2
|
(HPO:0010719)
|
Abnormality of hair texture |
Very frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
3
|
(HPO:0002217)
|
Slow-growing hair |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
4
|
(HPO:0002213)
|
Fine hair |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
5
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
6
|
(HPO:0009933)
|
Narrow naris |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
7
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
8
|
(HPO:0000341)
|
Narrow forehead |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
9
|
(HPO:0000694)
|
Shell teeth |
|
|
|
|
2 / 7739
|
|
10
|
(HPO:0000698)
|
Conical tooth |
|
|
|
|
14 / 7739
|
|
11
|
(HPO:0002299)
|
Brittle hair |
|
|
|
|
52 / 7739
|
|
12
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
13
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
14
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
15
|
(OMIM)
|
Borderline microcephaly |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Sparse, fine hair |
|
|
|
|
4 / 7739
|
|
17
|
(OMIM)
|
Absent cuticular scale |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Narrow hair shaft |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Short anagen phase of hair cycle |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
21
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|