|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
3
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
4
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
5
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
6
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
7
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
10
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
11
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
12
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
13
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
14
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
15
|
(OMIM)
|
Nephrotic syndrome, steroid-nonresponsive |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Keratinized, purple, nodular skin lesions (in 2 of 4 patients) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Intermediate level of cellular sensitivity to UV light |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|