| Disease Aliases (26) | Association, charge Associations, charge Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies Charge association Charge associations Charge syndrome, familial Charge syndromes Charge syndromes, familial Coloboma - heart defects - atresia choanae - retardation of growth and development - genitourinary problems - ear abnormalities Coloboma, congenital heart disease, choanal atresia, growth retardation, genital hypoplasia, ear and hearing anomaly syndrome Coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome Colobomatous microphthalmia, heart disease, hearing loss, and mental retardation Familial charge syndrome Familial charge syndromes Hall-hittner syndrome Hhs Hall hittner syndrome Hittner hirsch kreh syndrome Syndrome, charge Syndrome, hall-hittner Coloboma, heart defects, choanal atresia, retardation of growth and development, genital abnormalities, and ear anomalies association Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations (charge) association |
Associated Genes (2) NCBI-RefSeq: CHD7 (Chromodomain helicase DNA binding protein 7) External Links: gnomAD browser Ensembl GeneCards
NCBI-RefSeq: SEMA3E (Semaphorin 3E) External Links: gnomAD browser Ensembl GeneCards
| |||||||
| Cross-references of CHARGE syndrome | OMIM | GARD | Orphanet | NCBI-GTR | NCBI-MedGen | MalaCards | MeSH | Annotations | |