congenital nervous system disorder severe intellectual disability-progressive spastic diplegia syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/7572 https://github.com/monarch-initiative/mondo/issues/9957 https://rarediseases.info.nih.gov/diseases/3505/severe-intellectual-disability-progressive-spastic-diplegia-syndrome https://www.malacards.org/card/autosomal_dominant_intellectual_developmental_disorder_19 https://www.malacards.org/card/neurodevelopmental_disorder_with_spastic_diplegia_and_visual_defects intellectual disability, autosomal dominant type 19 intellectual disability, autosomal dominant 19 CTNNB1-related intellectual disability GARD:0003505 UMLS:C3554449 Orphanet:404473 ICD10CM:Q87.88 DOID:0070049 mental retardation, autosomal dominant type 19 MRD19 neurodevelopmental disorder with spastic diplegia and visual defects severe intellectual disability-progressive spastic diplegia syndrome OMIM:615075 MONDO:0014035 autosomal dominant intellectual disability 19 mental retardation, autosomal dominant 19 MEDGEN:767363 CTNNB1 syndrome 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. multiple congenital anomalies/dysmorphic syndrome-intellectual disability autosomal dominant non-syndromic intellectual disability CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy autosomal dominant syndromic intellectual disability