|
1
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0001387)
|
Joint stiffness |
Frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
3
|
(HPO:0002205)
|
Recurrent respiratory infections |
Very frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
4
|
(HPO:0010783)
|
Erythema |
Frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
5
|
(HPO:0000656)
|
Ectropion |
|
|
|
|
25 / 7739
|
|
6
|
(HPO:0008064)
|
Ichthyosis |
Very frequent [Orphanet]
|
|
|
|
108 / 7739
|
|
7
|
(HPO:0000153)
|
Abnormality of the mouth |
Frequent [Orphanet]
|
|
|
|
60 / 7739
|
|
8
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
9
|
(HPO:0001238)
|
Slender finger |
Frequent [Orphanet]
|
|
|
|
23 / 7739
|
|
10
|
(HPO:0100716)
|
Self-injurious behavior |
Occasional [Orphanet]
|
|
|
|
43 / 7739
|
|
11
|
(HPO:0001944)
|
Dehydration |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
|
12
|
(HPO:0001829)
|
Foot polydactyly |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
13
|
(HPO:0001695)
|
Cardiac arrest |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
14
|
(HPO:0001161)
|
Hand polydactyly |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
|
15
|
(HPO:0000962)
|
Hyperkeratosis |
Very frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
16
|
(HPO:0002047)
|
Malignant hyperthermia |
Occasional [Orphanet]
|
|
|
|
20 / 7739
|
|
17
|
(HPO:0000598)
|
Abnormality of the ear |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
18
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
19
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
|
20
|
(HPO:0000492)
|
Abnormality of the eyelid |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
21
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
22
|
(HPO:0001622)
|
Premature birth |
|
|
|
|
100 / 7739
|
|
23
|
(HPO:0002063)
|
Rigidity |
|
|
|
|
92 / 7739
|
|
24
|
(HPO:0007431)
|
Congenital ichthyosiform erythroderma |
|
|
|
|
17 / 7739
|
|
25
|
(HPO:0009381)
|
Short finger |
|
|
|
|
45 / 7739
|
|
26
|
(OMIM)
|
Flattened |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Rudimentary |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Severe ectropion |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0012472)
|
Eclabion |
|
|
|
|
7 / 7739
|
|
30
|
(OMIM)
|
Constricting bands around extremities at birth |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Semiflexed rigid limbs |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Necrotic fingertips |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Necrotic distal toes |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Collodion membrane at birth |
|
|
|
|
10 / 7739
|
|
35
|
(OMIM)
|
Harlequin fetus |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Large diamond-shaped plaques |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Abnormal lamellar granule formation |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Tonofibril defect (cross-beta-protein structure) |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0001522)
|
Death in infancy |
Occasional [Orphanet]
|
|
|
|
275 / 7739
|
|
40
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|