|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000311)
|
Round face |
Occasional [Orphanet]
|
|
|
|
104 / 7739
|
|
3
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
4
|
(HPO:0000774)
|
Narrow chest |
Very frequent [Orphanet]
|
|
|
|
167 / 7739
|
|
5
|
(HPO:0009800)
|
Maternal diabetes |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
6
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
7
|
(HPO:0002592)
|
Gastric ulcer |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
8
|
(HPO:0005988)
|
Congenital muscular torticollis |
Occasional [Orphanet]
|
|
|
|
11 / 7739
|
|
9
|
(HPO:0003196)
|
Short nose |
Occasional [Orphanet]
|
|
|
|
264 / 7739
|
|
10
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Occasional [Orphanet]
|
|
|
|
158 / 7739
|
|
11
|
(HPO:0011331)
|
Hemifacial atrophy |
Occasional [Orphanet]
|
|
|
|
79 / 7739
|
|
12
|
(HPO:0100016)
|
Abnormality of mesentery morphology |
Very frequent [Orphanet]
|
|
|
|
7 / 7739
|
|
13
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
14
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
15
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
16
|
(HPO:0002983)
|
Micromelia |
Very frequent [Orphanet]
|
|
|
|
130 / 7739
|
|
17
|
(HPO:0001562)
|
Oligohydramnios |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
18
|
(HPO:0002818)
|
Abnormality of the radius |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
19
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|
|
20
|
(HPO:0002803)
|
Congenital contracture |
|
|
|
|
45 / 7739
|
|
21
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
22
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
23
|
(OMIM)
|
Absent muscle spindles |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Spinal motor neuron depletion |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0002242)
|
Abnormality of the intestine |
Very frequent [Orphanet]
|
|
|
|
42 / 7739
|
|
26
|
(HPO:0040064)
|
Abnormality of limbs |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
27
|
(HPO:0200040)
|
Epidermoid cyst |
Frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
28
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
30
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
|
|
|
|
355 / 7739
|