Panel | Mode of inheritance | Details |
---|---|---|
3 panels | ||
Green in DDG2PComponent of the following Super Panels:
Signed-off version 4.6 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MUCOPOLYSACCHARIDOSIS TYPE 9 601492 |
Green in Likely inborn error of metabolismComponent of the following Super Panels:
R-numbers: R98 Signed-off version 6.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Mucopolysaccharidosis type IX, 601492, MPS IX, Natowicz (MPS IV, Morquio disease) |
Green in Lysosomal storage disorderR-numbers: R276 Signed-off version 3.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes ?Mucopolysaccharidosis type IX OMIM:601492, mucopolysaccharidosis type 9 MONDO:0011093 |