PTHLH

parathyroid hormone like hormone
OMIM: 168470
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRACHYDACTYLY, TYPE E2 613382, CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
BRACHYDACTYLY, TYPE E2, CLUBBING WITH SKELETAL DYSPLASIA INC ACROOSTEOLYSIS
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brachydactyly, type E2 613382
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Brachydactyly, type E2 613382, Brachydactyly, type E2 613382