IHH

PanelMode of inheritanceDetails
5 panels
R-numbers: R100
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
185900, chr2q35dup syndrome 185900, Acrocapitofermoral dysplasia 607778, bracydactyly type A1 112500
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
ACROCAPITOFEMORAL DYSPLASIA 607778, BRACHYDACTYLY, TYPE A1 112500
R-numbers: R21
Signed-off version 1.92
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
BRACHYDACTYLY, TYPE A1, ACROCAPITOFEMORAL DYSPLASIA
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acrocapitofemoral dysplasia 607778, Brachydactyly, type A1 112500, syndactyly and craniosynostosis, F syndrome
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acrocapitofemoral dysplasia 607778, Brachydactyly, type A1 112500