Panel | Mode of inheritance | Details |
---|---|---|
6 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.15 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1 309580, ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE 301040 |
Green in Differences in sex developmentR-numbers: R146 Signed-off version 4.5 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mental retardation-hypotonic facies syndrome, X-linked 309580 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.9 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Alpha-thalassemia/mental retardation syndrome, 301040, Mental retardation-hypotonic facies syndrome, X-linked, 309580 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.195 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1, ALPHA-THALASSEMIA MENTAL RETARDATION SYNDROME X-LINKED NON-DELETION TYPE |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.51 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Alpha-thalassemia/mental retardation syndrome, 301040, Mental retardation-hypotonic facies syndrome, X-linked, 309580 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.8 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Mental retardation-hypotonic facies syndrome, X-linked, 309580 (Microcephaly), Alpha-thalassemia/mental retardation syndrome, 301040 (Microcephaly) |