|
1
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
2
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
3
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
|
4
|
(HPO:0000664)
|
Synophrys |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
5
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
|
6
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
7
|
(HPO:0000505)
|
Visual impairment |
Very frequent [Orphanet]
|
|
|
|
297 / 7739
|
|
8
|
(HPO:0000574)
|
Thick eyebrow |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
9
|
(HPO:0001956)
|
Truncal obesity |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
10
|
(HPO:0002213)
|
Fine hair |
Frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
11
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
14
|
(HPO:0000269)
|
Prominent occiput |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
|
15
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
16
|
(HPO:0002750)
|
Delayed skeletal maturation |
Very frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
17
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
18
|
(HPO:0001100)
|
Heterochromia iridis |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
|
19
|
(HPO:0007818)
|
Central heterochromia |
|
|
|
|
2 / 7739
|
|
20
|
(HPO:0000639)
|
Nystagmus |
Very frequent [Orphanet]
|
|
|
|
555 / 7739
|
|
21
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
22
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
|
|
56 / 7739
|
|
23
|
(HPO:0000499)
|
Abnormality of the eyelashes |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
24
|
(HPO:0000824)
|
Growth hormone deficiency |
|
|
|
|
56 / 7739
|
|
25
|
(HPO:0001146)
|
Pigmentary retinal degeneration |
|
|
|
|
15 / 7739
|
|
26
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
27
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
28
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
29
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
30
|
(HPO:0004523)
|
Long eyebrows |
|
|
|
|
4 / 7739
|
|
31
|
(HPO:0008736)
|
Hypoplasia of penis |
|
|
|
|
7 / 7739
|
|
32
|
(OMIM)
|
Very long eyelashes and eyebrows |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Frontal alopecia |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Low-birth-weight dwarfism |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Bulging occipital and frontal bones |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Distal muscle weakness and wasting |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
38
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
39
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Very frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
40
|
(HPO:0040075)
|
Hypopituitarism |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
42
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|