present in Gene: TUBB4A
present in Chromosome: 19
Position on Chromosome: 6495437
Alleles of this Variant: G/A;C
rs748787734 in
TUBB4A gene and
Abnormal posture
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
rs748787734 in
TUBB4A gene and
Abnormality of the basal ganglia
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
rs748787734 in
TUBB4A gene and
Central hypotonia
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
rs748787734 in
TUBB4A gene and
Cerebellar vermis atrophy
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
rs748787734 in
TUBB4A gene and
Cerebral hypomyelination
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
rs748787734 in
TUBB4A gene and
Developmental regression
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
rs748787734 in
TUBB4A gene and
Dysarthria
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
rs748787734 in
TUBB4A gene and
Dystonia
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
rs748787734 in
TUBB4A gene and
Global developmental delay
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
rs748787734 in
TUBB4A gene and
Kinetic tremor
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
rs748787734 in
TUBB4A gene and
Leukodystrophy, Hypomyelinating, 6
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
rs748787734 in
TUBB4A gene and
Muscle Hypertonia
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.
rs748787734 in
TUBB4A gene and
Nystagmus
PMID 24785942 2014 Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation.