FREM1

FRAS1 related extracellular matrix 1
OMIM: 608944
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MANITOBA OCULOTRICHOANAL SYNDROME 248450
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MANITOBA OCULOTRICHOANAL SYNDROME
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MANITOBA OCULOTRICHOANAL SYNDROME 248450
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bifid nose with or without anorectal and renal anomalies, 608980