1
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
2
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
3
|
(HPO:0000476)
|
Cystic hygroma |
Frequent [Orphanet]
|
|
|
|
22 / 7739
|
4
|
(HPO:0001059)
|
Pterygium |
Occasional [Orphanet]
|
|
|
|
16 / 7739
|
5
|
(HPO:0001305)
|
Dandy-Walker malformation |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
6
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
7
|
(HPO:0001557)
|
Prenatal movement abnormality |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
8
|
(HPO:0001561)
|
Polyhydramnios |
Frequent [Orphanet]
|
|
|
|
191 / 7739
|
9
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
10
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
11
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
12
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
|
|
39 / 7739
|
13
|
(HPO:0005280)
|
Depressed nasal bridge |
Frequent [Orphanet]
|
|
|
|
381 / 7739
|
14
|
(HPO:0006703)
|
Aplasia/Hypoplasia of the lungs |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
15
|
(HPO:0010489)
|
Absent palmar crease |
Very frequent [Orphanet]
|
|
|
|
5 / 7739
|
16
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
|
|
129 / 7739
|
17
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
18
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
19
|
(HPO:0001762)
|
Talipes equinovarus |
Very frequent [Orphanet]
|
|
|
|
309 / 7739
|
20
|
(HPO:0002803)
|
Congenital contracture |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
21
|
(HPO:0000035)
|
Abnormality of the testis |
Frequent [Orphanet]
|
|
|
|
296 / 7739
|
22
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
23
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
24
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
25
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
26
|
(HPO:0002244)
|
Abnormality of the small intestine |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
27
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
28
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
29
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
30
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
31
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
32
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
33
|
(HPO:0000343)
|
Long philtrum |
|
|
|
|
262 / 7739
|
34
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
35
|
(HPO:0000437)
|
Depressed nasal tip |
|
|
|
|
17 / 7739
|
36
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
37
|
(HPO:0000506)
|
Telecanthus |
|
|
|
|
156 / 7739
|
38
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
39
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
40
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
41
|
(HPO:0000883)
|
Thin ribs |
|
|
|
|
31 / 7739
|
42
|
(HPO:0001193)
|
Ulnar deviation of the hand or of fingers of the hand |
|
|
|
|
17 / 7739
|
43
|
(HPO:0001196)
|
Short umbilical cord |
|
|
|
|
4 / 7739
|
44
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
45
|
(HPO:0001331)
|
Absent septum pellucidum |
|
|
|
|
16 / 7739
|
46
|
(HPO:0001438)
|
Abnormality of the abdomen |
|
|
|
|
28 / 7739
|
47
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
48
|
(HPO:0001622)
|
Premature birth |
|
|
|
|
100 / 7739
|
49
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
50
|
(HPO:0001989)
|
Fetal akinesia sequence |
|
|
|
|
14 / 7739
|
51
|
(HPO:0002089)
|
Pulmonary hypoplasia |
|
|
|
|
80 / 7739
|
52
|
(HPO:0002389)
|
Cavum septum pellucidum |
|
|
|
|
13 / 7739
|
53
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|
54
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
55
|
(HPO:0003070)
|
Elbow ankylosis |
|
|
|
|
8 / 7739
|
56
|
(HPO:0003100)
|
Slender long bone |
|
|
|
|
45 / 7739
|
57
|
(HPO:0003826)
|
Stillbirth |
30% [HPO:probinson]
|
|
|
|
40 / 7739
|
58
|
(HPO:0005257)
|
Thoracic hypoplasia |
|
|
|
|
79 / 7739
|
59
|
(HPO:0006266)
|
Small placenta |
|
|
|
|
2 / 7739
|
60
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|