1
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
2
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
3
|
(HPO:0000325)
|
Triangular face |
|
|
|
|
91 / 7739
|
4
|
(HPO:0000341)
|
Narrow forehead |
|
|
|
|
96 / 7739
|
5
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
6
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
7
|
(HPO:0000586)
|
Shallow orbits |
|
|
|
|
23 / 7739
|
8
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
9
|
(HPO:0000703)
|
Dentinogenesis imperfecta |
|
|
|
|
18 / 7739
|
10
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
11
|
(HPO:0000787)
|
Nephrolithiasis |
|
|
|
|
78 / 7739
|
12
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
13
|
(HPO:0000885)
|
Broad ribs |
|
|
|
|
21 / 7739
|
14
|
(HPO:0000926)
|
Platyspondyly |
|
|
|
|
150 / 7739
|
15
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
16
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
|
|
51 / 7739
|
17
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
18
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
19
|
(HPO:0002021)
|
Pyloric stenosis |
|
|
|
|
51 / 7739
|
20
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
21
|
(HPO:0002761)
|
Generalized joint laxity |
|
|
|
|
8 / 7739
|
22
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
23
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
24
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
25
|
(HPO:0004482)
|
Relative macrocephaly |
|
|
|
|
44 / 7739
|
26
|
(HPO:0006528)
|
Chronic lung disease |
|
|
|
|
5 / 7739
|
27
|
(HPO:0011220)
|
Prominent forehead |
|
|
|
|
137 / 7739
|
28
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
29
|
(OMIM)
|
Weight less than 5th centile |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Open anterior fontanel |
|
|
|
|
2 / 7739
|
31
|
(OMIM)
|
Renal stones, bilateral |
|
|
|
|
1 / 7739
|
32
|
(OMIM)
|
Bone fractures, multiple |
|
|
|
|
1 / 7739
|
33
|
(OMIM)
|
Bone deformities, multiple |
|
|
|
|
1 / 7739
|
34
|
(OMIM)
|
Short limbs, relative |
|
|
|
|
1 / 7739
|
35
|
(HPO:0006487)
|
Bowing of the long bones |
|
|
|
|
95 / 7739
|
36
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|