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- B530ba9c3762e1b8063c5b84b9e0176e8 hasDbXref "https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome" @default.
- B530ba9c3762e1b8063c5b84b9e0176e8 type Axiom @default.
- B530ba9c3762e1b8063c5b84b9e0176e8 annotatedProperty IAO_0000115 @default.
- B530ba9c3762e1b8063c5b84b9e0176e8 annotatedSource MONDO_0014035 @default.
- B530ba9c3762e1b8063c5b84b9e0176e8 annotatedTarget "Severe intellectual disability-progressive spastic diplegia syndrome is a rare condition that has been described in a few people with severe intellectual disability. Other signs and symptoms include progressive microcephaly (very small head); ataxia (lack of coordination); spasticity ; and/or skin, hair and mild facial anomalies. It is caused by changes (mutations) in the CTNNB1 gene and it is inherited in an autosomal dominant fashion. Treatment is based on the signs and symptoms present in each person." @default.