• UMLS:C4225234 (MONDO:equivalentTo)
• Orphanet:468699 (MONDO:equivalentTo)
• GARD:17846 (MONDO:GARD)
• MEDGEN:899837 (MONDO:equivalentTo)
• OMIM:616721 (Orphanet:468699)
• DOID:0070266 (MONDO:equivalentTo)

gard_rare, ordo_disorder, matrix_llm__is_cancer_other, matrix_llm__txgnn_other, mondo_top_grouping_member, nord_rare, matrix_included, mondo_top_grouping_metabolic_disease, matrix_txgnn_grouping_member, rare, orphanet_rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, matrix_txgnn_grouping_metabolic_disease, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease, harrisons_view_metabolic_disease

• [X] hereditary neurological disease
• [X] central nervous system malformation
• [X] congenital nervous system disorder
• [X] disorder of protein N-glycosylation
• [X] developmental anomaly of metabolic origin
• congenital disorder of glycosylation type II
• [X] multiple congenital anomalies/dysmorphic syndrome-intellectual disability
• disease has major feature some [X] central nervous system malformation
• has material basis in germline mutation in some SLC39A8