cobblestone lissencephaly without muscular or ocular involvement
Go to external page http://purl.obolibrary.org/obo/MONDO_0014077
Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures. [ Orphanet:352682 ]
Synonyms: lissencephaly type 2 without muscular or ocular involvement lissencephaly type 5 cobblestone lissencephaly without muscular or eye involvement cobblestone lissencephaly without muscular or ocular involvement lissencephaly type 2 without muscular or eye involvement
Term information
- MEDGEN:767571 (MONDO:equivalentTo)
- DOID:0112230 (MONDO:equivalentTo)
- GARD:17526 (MONDO:GARD)
- UMLS:C3554657 (MONDO:equivalentTo)
- OMIM:615191 (Orphanet:352682/e)
- Orphanet:352682 (OMIM:615191)
gard_rare, ordo_disorder, matrix_llm__is_cancer_other, mondo_top_grouping_member, matrix_llm__txgnn_other, nord_rare, matrix_included, clingen, rare, orphanet_rare, harrisons_view_nervous_system_disorder, 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_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis
http://identifiers.org/medgen/767571
http://linkedlifedata.com/resource/umls/id/C3554657
http://www.orpha.net/ORDO/Orphanet_352682
https://omim.org/entry/615191
http://purl.obolibrary.org/obo/DOID_0112230