autosomal recessive spinocerebellar ataxia 20
Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0015244
autosomal recessive cerebellar ataxia
is_a
MONDO:0020022
central nervous system malformation
is_a
SCAR20
exact
SNX14 autosomal recessive cerebellar ataxia
exact
autosomal recessive cerebellar ataxia caused by mutation in SNX14
exact
autosomal recessive spinocerebellar ataxia type 20
exact
intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome
exact
spinocerebellar ataxia, autosomal recessive 20
related
spinocerebellar ataxia, autosomal recessive type 20
exact
SPAC5D6.07c