|
1
|
(HPO:0000057)
|
Clitoromegaly |
|
|
|
|
30 / 7739
|
|
2
|
(HPO:0000059)
|
Hypoplastic labia majora |
|
|
|
|
22 / 7739
|
|
3
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
6
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
7
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
8
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
9
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
10
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
11
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
12
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
|
13
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
14
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
15
|
(HPO:0002779)
|
Tracheomalacia |
|
|
|
|
26 / 7739
|
|
16
|
(HPO:0002780)
|
Bronchomalacia |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
|
18
|
(HPO:0003187)
|
Breast hypoplasia |
|
|
|
|
17 / 7739
|
|
19
|
(HPO:0003561)
|
Birth length less than 3rd percentile |
|
|
|
|
10 / 7739
|
|
20
|
(HPO:0006498)
|
Aplasia/Hypoplasia of the patella |
rare [HPO:skoehler]
|
|
|
|
10 / 7739
|
|
21
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
22
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
23
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
24
|
(OMIM)
|
Birth weight less than 3rd percentile |
|
|
|
|
6 / 7739
|
|
25
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
26
|
(OMIM)
|
Small external auditory meatus |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Respiratory problems |
|
|
|
|
2 / 7739
|
|
28
|
(OMIM)
|
Feeding problems in early infancy |
|
|
|
|
3 / 7739
|
|
29
|
(OMIM)
|
Hypoplastic labia majora, mild |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Hyperextensible joints, especially elbows and knees |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Camptodactyly, distal interphalangeal, of second, third, and fourth fingers |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Camptodactyly, proximal interphalangeal, of fifth fingers |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|