Panel | Mode of inheritance | Details |
---|---|---|
9 panels | ||
Green in Albinism or congenital nystagmusR-numbers: R39 Signed-off version 3.0 | X-LINKED: hemizygous mutation in males, biallelic mutations in females | Phenotypes Mental retardation, with or without nystagmus 300422, Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749 XLD, FG syndrome 4 300422 |
Component of the following Super Panels:
Signed-off version 6.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes FG syndrome 4, 300422, Mental retardation, with or without nystagmus, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, Pontocerebellar Hypoplasia, FG syndrome 4, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749, Mental retardation, with or without nystagmus, 300422 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | 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 CASK-RELATED 300749, FG SYNDROME TYPE 4 300422, MRX WITH/WITHOUT NYSTAGMUS 300749 |
Green in Early onset or syndromic epilepsyComponent of the following Super Panels:
R-numbers: R59 Signed-off version 6.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia 300749, Mental retardation, with or without nystagmus 300422 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes MRX WITH/WITHOUT NYSTAGMUS, MENTAL RETARDATION X-LINKED CASK-RELATED, FG SYNDROME TYPE 4 |
R-numbers: R54 Signed-off version 6.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes FG syndrome 4, 300422, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749FG syndrome 4, 300422Mental retardation, with or without nystagmus, 300422, MENTAL RETARDATION X-LINKED CASK-RELATED (MRXCASK) |
Component of the following Super Panels:
Signed-off version 6.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes Mental retardation and microcephaly with pontine and cerebellar hypoplasia OMIM:300749 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.0 | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | Phenotypes CASK-related XLID, severe intellectual disability, brainstem and cerebellar hypoplasia, and microcephaly, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749, MICPCH, Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, 300749 |