• MEDGEN:934745 (MONDO:equivalentTo)
• OMIM:616954 (Orphanet:488642)
• GARD:17898 (MONDO:GARD)
• UMLS:C4310778 (MONDO:equivalentTo)
• Orphanet:488642 (MONDO:equivalentTo)

ordo_disorder, gard_rare, matrix_llm__is_cancer_other, matrix_llm__txgnn_other, mondo_top_grouping_member, nord_rare, matrix_included, clingen, rare, orphanet_rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, harrisons_view_chromosomal_disorder, mondo_top_grouping_chromosomal_disorder, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, ordo_malformation_syndrome, mondo_top_grouping_nervous_system_disorder, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease

• [X] hereditary neurological disease
• [X] central nervous system malformation
• [X] congenital nervous system disorder
• [X] partial monosomy of the long arm of chromosome 9
• [X] multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
• [X] congenital limb malformation
• [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 TELO2