partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Go to external page http://purl.obolibrary.org/obo/MONDO_0018430
A rare, hereditary, cerebral malformation with epilepsy syndrome characterized by severe global developmental delay with no ability to walk and no verbal language, intractable epilepsy, partial agenesis of the corpus callosum and cerebellar vermis hypoplasia with posterior fossa cysts. [ Orphanet:401959 ]
Term information
- GARD:21707 (MONDO:GARD)
- Orphanet:401959 (MONDO:equivalentTo)
- MEDGEN:1660429 (MONDO:equivalentTo)
- UMLS:C4750913 (MONDO:equivalentTo)
ordo_disorder, gard_rare, matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_included, nord_rare, 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, mondo_top_grouping_disorder_of_development_or_morphogenesis, orphanet_rare, harrisons_view_nervous_system_disorder
http://identifiers.org/medgen/1660429
http://linkedlifedata.com/resource/umls/id/C4750913
http://www.orpha.net/ORDO/Orphanet_401959