|
1
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0002223)
|
Absent eyebrow |
|
|
|
|
21 / 7739
|
|
5
|
(HPO:0000561)
|
Absent eyelashes |
|
|
|
|
18 / 7739
|
|
6
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
7
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
8
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Very frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
9
|
(HPO:0002059)
|
Cerebral atrophy |
|
|
|
|
171 / 7739
|
|
10
|
(HPO:0007439)
|
Generalized keratosis follicularis |
|
|
|
|
4 / 7739
|
|
11
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
12
|
(OMIM)
|
Early death |
|
|
|
|
13 / 7739
|
|
13
|
(OMIM)
|
Absent hair, eyebrows and eyelashes |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Severe congenital proportionate dwarfism |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
16
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
17
|
(HPO:0001417)
|
X-linked inheritance |
|
|
|
|
173 / 7739
|
|
18
|
(HPO:0003819)
|
Death in childhood |
|
|
|
|
42 / 7739
|