Version 1.10
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
|
Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.47
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Klippel-Feil syndrome 3, autosomal dominant, 613702
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.56
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
Phenotypes
- Klippel-Feil anomaly with laryngeal malformation - 613702
|
Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- MICROPHTHALMIA ISOLATED TYPE 7 613704
- KLIPPEL-FEIL SYNDROME TYPE 3 613702
- MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 6 613703
|
Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.51
|
review
|
Not set
|
Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Klippel-Feil syndrome 3, autosomal dominant, 613702
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Klippel-Feil syndrome 3, autosomal dominant, OMIM:613702
- Klippel-Feil syndrome 3, autosomal dominant, MONDO:0013375
- Microphthalmia with coloboma 6, OMIM:613703
- microphthalmia, isolated, with coloboma 6, MONDO:0013376
- Microphthalmia, isolated 7, OMIM:613704
- isolated microphthalmia 7, MONDO:0013377
|