|
1
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000232)
|
Everted lower lip vermilion |
Frequent [Orphanet]
|
|
|
|
90 / 7739
|
|
6
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
7
|
(HPO:0000767)
|
Pectus excavatum |
Frequent [Orphanet]
|
|
|
|
244 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
10
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
11
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
12
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
13
|
(HPO:0000713)
|
Agitation |
|
|
|
|
18 / 7739
|
|
14
|
(HPO:0000739)
|
Anxiety |
|
|
|
|
67 / 7739
|
|
15
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
16
|
(HPO:0001547)
|
Abnormality of the rib cage |
|
|
|
|
25 / 7739
|
|
17
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
18
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
19
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
20
|
(HPO:0004404)
|
Abnormality of the nipple |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
21
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
|
22
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
23
|
(HPO:0000271)
|
Abnormality of the face |
|
|
|
|
108 / 7739
|
|
24
|
(OMIM)
|
Receding hairline |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Long smooth philtrum |
|
|
|
|
9 / 7739
|
|
26
|
(OMIM)
|
Fleshy lower lip |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Wide-set nipples |
|
|
|
|
1 / 7739
|
|
28
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
29
|
(OMIM)
|
Anxious affect |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Obsessive tendencies |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Increased serum insulin-like growth factor-1 (IGF1, 147740) |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Increased or normal serum growth hormone (GH, 139250) |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
34
|
(HPO:0000288)
|
Abnormality of the philtrum |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
35
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
36
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
37
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
38
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|
|
39
|
(HPO:0030269)
|
Increased serum insulin-like growth factor 1 {comment="HPO:probinson"} |
|
|
|
|
2 / 7739
|