A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has material basis in heterozygous mutation in AFF3 on chromosome 2q11.2. [ DOID:0112383 ]
Term information
- OMIM:619297 (MONDO:equivalentTo)
- DOID:0112383 (MONDO:equivalentTo)
- UMLS:C5543317 (MONDO:equivalentTo)
- MEDGEN:1779339 (MONDO:equivalentTo)
matrix_llm__is_cancer_other, matrix_llm__is_glucose_dysfunction_other, matrix_llm__tag_qualy_lost_other, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_included, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, harrisons_view_member, harrisons_view_syndromic_disease, harrisons_view_hereditary_disease, mondo_top_grouping_syndromic_disease
http://purl.obolibrary.org/obo/DOID_0112383
https://omim.org/entry/619297
http://linkedlifedata.com/resource/umls/id/C5543317
http://identifiers.org/medgen/1779339