MCPH1

PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALY PRIMARY TYPE 1 251200
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALY PRIMARY TYPE 1
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 1, primary, autosomal recessive, OMIM:251200
R-numbers: R88
Signed-off version 5.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 1, primary, autosomal recessive, OMIM:251200