TBC1D32

TBC1 domain family member 32
OMIM: 615867
PanelMode of inheritanceDetails
5 panels
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
OFD IX
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome, MONDO:0015375
Component of the following Super Panels:
  • - Cerebral malformation
Signed-off version 5.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome, MONDO:0015375
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Orofaciodigital syndrome, MONDO:0015375
R-numbers: R159
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Syndromic Hypopituitarism, orofaciodigital syndrome