|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
3
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
4
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
5
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
6
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
7
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
8
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
9
|
(HPO:0010455)
|
Steep acetabular roof |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0100543)
|
Cognitive impairment |
rare [HPO:skoehler]
|
|
|
|
230 / 7739
|
|
11
|
(OMIM)
|
Prominent nasal spine |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
11 ribs |
|
|
|
|
2 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|