STIL

STIL, centriolar assembly protein
OMIM: 181590
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MICROCEPHALY PRIMARY TYPE 7 612703
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 7, primary, autosomal recessive, OMIM:612703, Microcephaly 7, primary, autosomal recessive, MONDO:0012989
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly 7, primary, autosomal recessive, 612703, MICROCEPHALY PRIMARY TYPE 7
R-numbers: R88
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MCPH, primary microcephaly, Primary Microcephaly, Recessive, Microcephaly 7, primary, autosomal recessive, 612703, Microcephaly 7, Primary, Autosomal Recessive