• Orphanet:280640 (OMIM:614115)
• GARD:17299 (MONDO:GARD)
• OMIM:614115 (Orphanet:280640/e)
• UMLS:C3279875 (MONDO:equivalentTo)
• MEDGEN:481505 (MONDO:equivalentTo)

matrix_llm__is_cancer_other, gard_rare, ordo_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, mondo_top_grouping_member, mondo_top_grouping_hereditary_disease, nord_rare, matrix_included, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, ordo_malformation_syndrome, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, orphanet_rare, harrisons_view_nervous_system_disorder

• [X] brain disorder
• [X] hereditary neurological disease
• has material basis in germline mutation in some LAMC3