|
1
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
4
|
(HPO:0000349)
|
Widow's peak |
|
|
|
|
26 / 7739
|
|
5
|
(HPO:0000447)
|
Pear-shaped nose |
|
|
|
|
5 / 7739
|
|
6
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
7
|
(HPO:0000574)
|
Thick eyebrow |
|
|
|
|
96 / 7739
|
|
8
|
(HPO:0001047)
|
Atopic dermatitis |
|
|
|
|
20 / 7739
|
|
9
|
(HPO:0001177)
|
Preaxial hand polydactyly |
|
|
|
|
59 / 7739
|
|
10
|
(HPO:0001220)
|
Interphalangeal joint contracture of finger |
|
|
|
|
5 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
12
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
13
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
14
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
|
|
56 / 7739
|
|
15
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
16
|
(OMIM)
|
Narrow alae nasi |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
18
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|