present in Gene: CLUAP1
present in Chromosome: 16
Position on Chromosome: 3508407
Alleles of this Variant: T/G
rs768663992 in
CLUAP1 gene and
2-3 toe syndactyly
PMID 28679688 2017 Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
rs768663992 in
CLUAP1 gene and
Abnormality of the dentition
PMID 28679688 2017 Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
rs768663992 in
CLUAP1 gene and
Familial aplasia of the vermis
PMID 28679688 2017 Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
rs768663992 in
CLUAP1 gene and
Global developmental delay
PMID 28679688 2017 Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.
rs768663992 in
CLUAP1 gene and
Muscle hypotonia
PMID 28679688 2017 Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome.