present in Gene: ZNF142
present in Chromosome: 2
Position on Chromosome: 218643341
Alleles of this Variant: G/A;T
rs546151500 in
ZNF142 gene and
Delayed speech and language development
PMID 31036918 2019 Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
rs546151500 in
ZNF142 gene and
Dystonia
PMID 31036918 2019 Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
rs546151500 in
ZNF142 gene and
Global developmental delay
PMID 31036918 2019 Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
rs546151500 in
ZNF142 gene and
Poor school performance
PMID 31036918 2019 Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
rs546151500 in
ZNF142 gene and
Tonic - clonic seizures
PMID 31036918 2019 Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.