KIAA0753

PanelMode of inheritanceDetails
6 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Orofaciodigital syndrome XV, OMIM:617127, Orofaciodigital syndrome XV, MONDO:0014932
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome XV 617127
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Orofaciodigital syndrome XV 617127, Joubert syndrome, Short-rib skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Orofaciodigital syndrome XV 617127, Joubert syndrome, Short-rib skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Orofaciodigital syndrome XV 617127, Joubert syndrome, Short-rib skeletal dysplasia
R-numbers: R257
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib skeletal dysplasia, ?Orofaciodigital syndrome XV 617127, Joubert syndrome