IHH

PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ACROCAPITOFEMORAL DYSPLASIA 607778, BRACHYDACTYLY, TYPE A1 112500
R-numbers: R21, R412
Signed-off version 4.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acrocapitofemoral dysplasia, OMIM:607778, Brachydactyly, type A1, OMIM:112500
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acrocapitofemoral dysplasia, OMIM:607778, Brachydactyly, type A1, OMIM:112500
R-numbers: R100
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Syndactyly, type 1, with or without craniosynostosis, OMIM:185900, Chr2q35dup syndrome
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acrocapitofemoral dysplasia, OMIM:607778, Brachydactyly, type A1, OMIM:112500