DDX59

DEAD-box helicase 59
OMIM: 615464
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OROFACIODIGITAL SYNDROME
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome V, OMIM:174300, Orofaciodigital syndrome V, MONDO:0008267
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome V, 174300
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome V 174300, Polydactyly
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome V, 174300
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome V, 174300
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome V, 174300
R-numbers: R257
Signed-off version 3.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes