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- B6ddf8a7807e02c05c93d3bcc515df979 hasDbXref "GARD:0004235" @default.
- B6ddf8a7807e02c05c93d3bcc515df979 type Axiom @default.
- B6ddf8a7807e02c05c93d3bcc515df979 annotatedProperty IAO_0000115 @default.
- B6ddf8a7807e02c05c93d3bcc515df979 annotatedSource MONDO_0010654 @default.
- B6ddf8a7807e02c05c93d3bcc515df979 annotatedTarget "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." @default.