facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Go to external page http://purl.obolibrary.org/obo/MONDO_0009074
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive. [ Orphanet:1970 ]
Term information
- GARD:2222 (MONDO:GARD)
- MEDGEN:341752 (MONDO:equivalentTo)
- OMIM:220219 (Orphanet:1970/e)
- UMLS:C1857352 (MONDO:equivalentTo)
- MESH:C535985 (MONDO:equivalentTo)
- Orphanet:1970 (OMIM:220219)
ordo_disorder, matrix_llm__is_cancer_other, gard_rare, matrix_llm__is_glucose_dysfunction_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__tag_qualy_lost_other, mondo_top_grouping_member, matrix_llm__txgnn_other, matrix_llm__medical_specialization_other, matrix_included, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, rare, harrisons_view_member, ordo_malformation_syndrome, mondo_top_grouping_nervous_system_disorder, mondo_top_grouping_disorder_of_development_or_morphogenesis, orphanet_rare, harrisons_view_nervous_system_disorder
http://linkedlifedata.com/resource/umls/id/C1857352
http://identifiers.org/mesh/C535985
https://omim.org/entry/220219
http://www.orpha.net/ORDO/Orphanet_1970
http://identifiers.org/medgen/341752
Dandy-Walker malformation with intellectual disability, macrocephaly, myopia, and BRACHYTELEPHALANGY
Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and BRACHYTELEPHALANGY