RS113994152 TSEN54
Upload your DNA to see your genotype for this variant.
What This Variant Does
"[OMIM:?]
Associated Conditions
Pontocerebellar hypoplasia type 2A
Olivopontocerebellar hypoplasia
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5
Microcephaly
Global developmental delay
Congenital cerebellar hypoplasia
Hypertonia
Amblyopia
Inborn genetic diseases
Pontoneocerebellar hypoplasia
Pontocerebellar hypoplasia type 2
Intellectual disability
Methylmalonic aciduria and homocystinuria type cblD
TSEN54 Pontocerebellar Hypoplasia
Other Variants in TSEN54