Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in CleftingComponent of the following Super Panels:
Signed-off version 3.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORCK TYPE, MRXSBRK |
Green in Diabetes - neonatal onsetR-numbers: R143 Signed-off version 3.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes diabetes mellitus (disease), MONDO:0005015, MEHMO syndrome, OMIM:300148 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 2.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MEHMO syndrome, OMIM:300148, MEHMO syndrome, MONDO:0010258 |
Green in Genetic epilepsy syndromesR-numbers: R59 Signed-off version 3.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MEHMO syndrome, 300148 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 4.4 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Mental retardation, X-linked, syndromic, Borck type, 300987 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 3.1 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MEHMO syndrome, OMIM:300148 |