Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- ClinGen
Phenotypes
- human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype
- 174500
- Triphalangeal thumbpolysyndactyly syndrome
- syndactyly type IV with tibial hypoplasia
Tags
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- ClinGen
Phenotypes
- human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype
- 174500
- Triphalangeal thumbpolysyndactyly syndrome
- syndactyly type IV with tibial hypoplasia
|