KIAA0586

PanelMode of inheritanceDetails
9 panels
Green
in Clefting
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY, SRTD14
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME 614615
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 14 with polydactyly 616546
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 23 616490
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 23, Joubert syndrome, Short-rib thoracic dysplasia 14 with polydactyly, Short-rib dysplasia 14 with polydactyly
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 23, Joubert syndrome, Short-rib thoracic dysplasia 14 with polydactyly, Short-rib dysplasia 14 with polydactyly
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 23, Joubert syndrome, Short-rib thoracic dysplasia 14 with polydactyly, Short-rib dysplasia 14 with polydactyly
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 23, Joubert syndrome, Short-rib thoracic dysplasia 14 with polydactyly, Short-rib dysplasia 14 with polydactyly