|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
3
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
4
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
|
|
61 / 7739
|
|
5
|
(HPO:0001191)
|
Abnormality of the carpal bones |
rare [HPO:skoehler]
|
|
|
|
6 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001385)
|
Hip dysplasia |
|
|
|
|
242 / 7739
|
|
8
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
9
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
10
|
(HPO:0003067)
|
Madelung deformity |
|
|
|
|
9 / 7739
|
|
11
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
12
|
(HPO:0004626)
|
Lumbar scoliosis |
|
|
|
|
5 / 7739
|
|
13
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
14
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
15
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
|
16
|
(HPO:0011787)
|
Central hypothyroidism |
|
|
|
|
4 / 7739
|
|
17
|
(OMIM)
|
Microcephaly, severe |
|
|
|
|
4 / 7739
|
|
18
|
(OMIM)
|
Prepubertal breast development |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Small uterus |
|
|
|
|
4 / 7739
|
|
20
|
(OMIM)
|
Small ovaries |
|
|
|
|
4 / 7739
|
|
21
|
(OMIM)
|
Delayed bone age (2 to 3 years) during childhood |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Lumbar scoliosis, mild |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Hip dysplasia, bilateral |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Foreshortened ulna (Madelung deformity) |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
26
|
(HPO:0011431)
|
Fetal fifth finger clinodactyly |
|
|
|
|
14 / 7739
|
|
27
|
(OMIM)
|
Short fifth middle phalanx (in some patients) |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Developmental delay, significant |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Normal luteinizing hormone (LH) |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Normal follicle-stimulating hormone (FSH) |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Modestly low estradiol |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Central hypothyroidism, borderline |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Insensitivity to growth hormone therapy |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|