Arts syndrome
Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.
MONDO:0016612
X-linked cerebellar ataxia
excluded_subClassOf
MONDO:0019236
inborn disorder of purine metabolism
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a
ARTS
exact
Arts
exact
Arts syndrome
exact
Arts syndrome, X-linked recessive
exact
MRXS18
exact
MRXSARTS
exact
X-linked fatal ataxia with deafness and loss of vision
related
lethal ataxia with deafness and optic atrophy
exact
lethal ataxia-deafness-optic atrophy
related
mental retardation, X-linked, syndromic 18
related
mental retardation, X-linked, syndromic, Arts type
related
syndromic X-linked intellectual disability 18
exact
syndromic X-linked intellectual disability Arts type
exact
SPBC3D6.06c SPCC1620.06c