CAMOS syndrome
CAMOS syndrome is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.
MONDO:0020043
autosomal recessive congenital cerebellar ataxia
is_a
CAMOS
related
SCAR5
exact
cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities
related
cerebellar ataxia with mental retardation optic atrophy and skin abnormalities
related
cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome
exact
spinocerebellar ataxia autosomal recessive 5
related