Phenotypes for disease #00508

63 entries on 1 page. Showing entries 1 - 63.
Legend  

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000017499 harlequin ichthyosis (HI); severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019697
0000017500 harlequin ichthyosis (HI); severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019698
0000017501 harlequin ichthyosis (HI); severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019699
0000017502 harlequin ichthyosis (HI); severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019700
0000017503 harlequin ichthyosis (HI); severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019701
0000017504 harlequin ichthyosis (HI); severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019702
0000017505 harlequin ichthyosis (HI); severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019703
0000017506 harlequin ichthyosis (HI); severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019704
0000017507 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019705
0000017508 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019706
0000017509 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019707
0000017510 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019708
0000017511 harlequin ichthyosis (HI), severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019709
0000017512 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019710
0000017513 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019711
0000017514 harlequin ichthyosis (HI), severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019712
0000017515 harlequin ichthyosis (HI), died neonatal - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019713
0000017516 harlequin ichthyosis (HI), severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019714
0000017517 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019715
0000017518 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019716
0000017519 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019717
0000017520 harlequin ichthyosis (HI), severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019718
0000017521 harlequin ichthyosis (HI), severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019719
0000017522 harlequin ichthyosis (HI), severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019720
0000017523 harlequin ichthyosis (HI), severe ichthyosiform erythroderma - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019721
0000017524 harlequin ichthyosis (HI), died early neonatal - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019722
0000017536 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019733
0000017537 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019734
0000017538 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019735
0000017539 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019736
0000017540 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019737
0000017541 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019738
0000017542 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019739
0000017543 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019740
0000017544 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019741
0000017545 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019742
0000017546 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019743
0000017547 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019744
0000017548 harlequin ichthyosis (HI) - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019745
0000017549 non-bullous congenital ichthyosiform erythroderma - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019746
0000017550 non-bullous congenital ichthyosiform erythroderma - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019747
0000017551 harlequin ichthyosis (HI) - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019748
0000017552 harlequin ichthyosis (HI) - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019749
0000017553 harlequin ichthyosis (HI) - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019750
0000017554 harlequin ichthyosis (HI) - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019751
0000017555 harlequin ichthyosis (HI) - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019752
0000017556 non-bullous congenital ichthyosiform erythroderma - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019753
0000017557 non-bullous congenital ichthyosiform erythroderma - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019754
0000017558 non-bullous congenital ichthyosiform erythroderma - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019755
0000017559 non-bullous congenital ichthyosiform erythroderma - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019756
0000017560 non-bullous congenital ichthyosiform erythroderma - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019757
0000017561 non-bullous congenital ichthyosiform erythroderma - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019758
0000017562 harlequin ichthyosis (HI)/congenital ichthyosiform erythroderma (CIE) - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019759
0000017565 harlequin ichthyosis (HI) - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019762
0000017566 lamellar ichthyosis type 2 - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019763
0000017567 lamellar ichthyosis type 2 - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019764
0000017568 lamellar ichthyosis type 2 - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019765
0000017569 lamellar ichthyosis type 2 - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019766
0000017570 lamellar ichthyosis type 2 - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019767
0000017571 lamellar ichthyosis type 2 - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019768
0000017572 lamellar ichthyosis type 2 - - Familial, autosomal recessive - - - - - Marianne Vos (LOVD-team) 00019769
0000017573 lamellar ichthyosis type 2 - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019770
0000017574 lamellar ichthyosis type 2 - - Isolated (sporadic) - - - - - Marianne Vos (LOVD-team) 00019771
Legend