DOCK3

dedicator of cytokinesis 3
OMIM: 603123
PanelMode of inheritanceDetails
2 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292, neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia OMIM:618292, neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia MONDO:0032661