FEM1B

PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539, FEM1B-related neurodevelopmental disorder with or without brain abnormalities
R-numbers: R21, R412
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:613539
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities, OMIM:621263, neurodevelopmental disorder, MONDO:0700092, intellectual disability, MONDO:0001071