ASPM

abnormal spindle microtubule assembly
OMIM: 605481
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
PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 5, primary, autosomal recessive, 608716, PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Component of the following Super Panels:
  • - Cerebral malformations
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 5, primary, autosomal recessive 608716
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 5, primary, autosomal recessive, MCPH, primary microcephaly, Primary Microcephaly, Recessive, Autosomal recessive primary microcephaly (MCPH), Microcephaly 5, primary, autosomal recessive, 608716, Microcephaly 5, Primary, Autosomal Recessive