Panel | Mode of inheritance | Details |
---|---|---|
5 panels | ||
Component of the following Super Panels:
Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Axonal type CMT disease type 2Z, 616688 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes MORC2 - axonal neuropathy |
R-numbers: R78 Signed-off version 5.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Charcot-Marie-Tooth disease, axonal, type 2Z |
Green in Intellectual disabilityComponent of the following Super Panels:
R-numbers: R29 Signed-off version 7.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Developmental delay, Intellectual disability, Growth retardation, Microcephaly, Craniofacial dysmorphism, Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 |
Green in Severe microcephalyR-numbers: R88 Signed-off version 6.0 | MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | Phenotypes Developmental delay, Intellectual disability, Growth retardation, Microcephaly, Craniofacial dysmorphism, Charcot-Marie-Tooth disease, axonal, type 2Z, OMIM:616688 |