• OMIM:618195 (MONDO:equivalentTo)
• MEDGEN:1648358 (MONDO:equivalentTo)
• UMLS:C4748658 (MONDO:equivalentTo)
• GARD:16306 (MONDO:GARD)

matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, matrix_llm__txgnn_other, mondo_top_grouping_hereditary_disease, harrisons_view_psychiatric_disorder, matrix_llm__tag_existing_treatment_other, matrix_included, mondo_top_grouping_psychiatric_disorder, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_member, rare, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, matrix_txgnn_grouping_psychiatric_disorder, harrisons_view_nervous_system_disorder

• [X] hereditary neurological disease
• [X] intellectual disability
• disease has feature some retinitis pigmentosa
• has material basis in germline mutation in some SCAPER