|
1
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
3
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
4
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
5
|
(HPO:0000260)
|
Wide anterior fontanel |
|
|
|
|
55 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
7
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
8
|
(HPO:0000348)
|
High forehead |
|
|
|
|
157 / 7739
|
|
9
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
10
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
11
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
12
|
(HPO:0000878)
|
11 pairs of ribs |
|
|
|
|
19 / 7739
|
|
13
|
(HPO:0000882)
|
Hypoplastic scapulae |
|
|
|
|
28 / 7739
|
|
14
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
|
15
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
16
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
17
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
18
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
19
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
|
20
|
(HPO:0002104)
|
Apnea |
|
|
|
|
106 / 7739
|
|
21
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
22
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
23
|
(HPO:0002786)
|
Tracheobronchomalacia |
|
|
|
|
4 / 7739
|
|
24
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
25
|
(HPO:0002866)
|
Hypoplastic iliac wing |
|
|
|
|
34 / 7739
|
|
26
|
(HPO:0003038)
|
Fibular hypoplasia |
|
|
|
|
30 / 7739
|
|
27
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
28
|
(HPO:0006390)
|
Anterior tibial bowing |
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0006628)
|
Absent sternal ossification |
|
|
|
|
6 / 7739
|
|
30
|
(OMIM)
|
Dwarfism, short-limb, prenatal onset |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Birth length 35-49 cm |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Failure to thrive in survivors |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Flat, small face |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Small thoracic cage |
|
|
|
|
3 / 7739
|
|
35
|
(OMIM)
|
Sex reversal in some katyotypic males (ovarian, mullerian duct, and vaginal development in XY individuals) |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Enlarged and elongated skull |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Hypoplastic, poorly ossified cervical vertebrae |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Non mineralized thoracic pedicles |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Relatively wide pelvic outlet |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Short phalanges both hands and feet |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Femurs mildly bowed |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Absent ossification of proximal tibial, and distal femoral epiphysis |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Cutaneous dimpling over bowed tibia |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
45
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
46
|
(OMIM)
|
Absent olfactory tract or bulbs |
|
|
|
|
1 / 7739
|