autosomal recessive spinocerebellar ataxia 20
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
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
SPAC5D6.07c