Partington syndrome
A rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is based on the signs and symptoms present in each person.
MONDO:0015921
obsolete ARX-related epileptic encephalopathy (obsolete MONDO:0015921)
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
is_a
MRXS1
related
PRTS
related
Partington X-linked intellectual disability syndrome
related
Partington X-linked mental retardation syndrome
related
Partington syndrome
exact
Partington syndrome, X-linked recessive
exact
Partington-Mulley syndrome
exact
X-linked intellectual disability-dystonia-dysarthria syndrome
exact
intellectual disability, X-linked, syndromic 1
related
intellectual disability, X-linked, with dystonic movements, ataxia, and seizures
related
intellectual disability-dystonic movements-ataxia-seizures syndrome
related
mental retardation, X-linked 36
related
mental retardation, X-linked, syndromic 1
related
mental retardation, X-linked, with dystonic movements, ataxia, and seizures
related