Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CHUDLEY-MCCULLOUGH SYNDROME |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 4.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes CHUDLEY-MCCULLOUGH SYNDROME |
Green in HydrocephalusR-numbers: R86 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Chudley-McCullough syndrome, OMIM:604213 |
Component of the following Super Panels:
Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Chudley-McCullough syndrome 604213 |
Green in Monogenic hearing lossComponent of the following Super Panels:
R-numbers: R67 Signed-off version 4.50 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Nonsyndromic Hearing Loss, Recessive, Chudley-McCullough syndrome, 604213, also causes arachnoid cysts and MRI changes - clinical phenotpye maybe mild neurological symptoms |