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- B7e3c05dc57cba8d4523bc207d16f6385 hasDbXref "https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome" @default.
- B7e3c05dc57cba8d4523bc207d16f6385 type Axiom @default.
- B7e3c05dc57cba8d4523bc207d16f6385 annotatedProperty IAO_0000115 @default.
- B7e3c05dc57cba8d4523bc207d16f6385 annotatedSource MONDO_0014035 @default.
- B7e3c05dc57cba8d4523bc207d16f6385 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.