SH3PXD2B

SH3 and PX domains 2B
OMIM: 613293
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FRANK-TER HAAR SYNDROME 249420
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FRANK-TER HAAR SYNDROME
R-numbers: R332
Signed-off version 1.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Borrone dermato-cardio-skeletal syndrome, FTHS, FRANK-TER HAAR SYNDROME
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Frank-ter Haar syndrome 249420
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Frank-ter Haar syndrome, 249420