|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
|
5
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
6
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
|
7
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
8
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
9
|
(HPO:0000385)
|
Small earlobe |
|
|
|
|
9 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
11
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
12
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
13
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
14
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
15
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
16
|
(HPO:0003042)
|
Elbow dislocation |
|
|
|
|
89 / 7739
|
|
17
|
(HPO:0003090)
|
Hypoplasia of the capital femoral epiphysis |
|
|
|
|
15 / 7739
|
|
18
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
|
19
|
(HPO:0003561)
|
Birth length less than 3rd percentile |
|
|
|
|
10 / 7739
|
|
20
|
(HPO:0005487)
|
Prominent metopic ridge |
|
|
|
|
28 / 7739
|
|
21
|
(HPO:0006361)
|
Irregular femoral epiphysis |
|
|
|
|
3 / 7739
|
|
22
|
(HPO:0006443)
|
Patellar aplasia |
|
|
|
|
14 / 7739
|
|
23
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
24
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
25
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
26
|
(OMIM)
|
Birth weight less than 3rd percentile |
|
|
|
|
6 / 7739
|
|
27
|
(OMIM)
|
Absent helices, bilaterally |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Small external auditory meatus |
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
30
|
(HPO:0000176)
|
Submucous cleft hard palate |
|
|
|
|
19 / 7739
|
|
31
|
(HPO:0000185)
|
Cleft soft palate |
|
|
|
|
18 / 7739
|
|
32
|
(HPO:0011819)
|
Submucous cleft soft palate |
|
|
|
|
12 / 7739
|
|
33
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
|
34
|
(OMIM)
|
Shoulder hypermobility |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Gastroesophageal reflux in early infancy |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Feeding problems in early infancy |
|
|
|
|
3 / 7739
|
|
37
|
(OMIM)
|
Elbow hypermobility |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Knee hypermobility |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Hypoplastic and irregular femoral epiphyses |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Hypoplastic and irregular tibial epiphyses |
|
|
|
|
1 / 7739
|
|
41
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
42
|
(HPO:0011431)
|
Fetal fifth finger clinodactyly |
|
|
|
|
14 / 7739
|
|
43
|
(OMIM)
|
Finger hypermobility |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0001864)
|
Clinodactyly of the 5th toe |
|
|
|
|
6 / 7739
|
|
45
|
(OMIM)
|
Mild psychomotor retardation |
|
|
|
|
3 / 7739
|
|
46
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|