Version 2.131
Latest signed off version: v2.3
(2 Mar 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Carey-Fineman-Ziter syndrome, OMIM:254940
- Carey-Fineman-Ziter syndrome, MONDO:0009700
Tags
- Q4_21_expert_review
- Q4_21_phenotype
- to_be_confirmed_NHSE
|
Version 5.352
Latest signed off version: v5.43
(4 Mar 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Carey-Fineman-Ziter syndrome
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.31
Latest signed off version: v2.2
(2 Mar 2020)
Component of the following Super Panels:
Hypotonic infant
Neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Carey-Fineman-Ziter syndrome, OMIM:254940
- Carey-Fineman-Ziter syndrome, MONDO:0009700
Tags
- Q3_21_expert_review
- Q3_21_phenotype
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.161
Latest signed off version: v3.2
(13 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Carey-Fineman-Ziter syndrome, OMIM:254940
- Carey-Fineman-Ziter syndrome, MONDO:0009700
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.89
Latest signed off version: v2.2
(2 Mar 2020)
Component of the following Super Panels:
Hypotonic infant
Neuromuscular disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Literature
Phenotypes
- Carey-Fineman-Ziter syndrome, OMIM:254940
- Carey-Fineman-Ziter syndrome, MONDO:0009700
|
Version 1.900
Latest signed off version: v1.92
(21 Aug 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Carey-Fineman-Ziter syndrome, OMIM:254940
- Carey-Fineman-Ziter syndrome, MONDO:0009700
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.70
Latest signed off version: v2.2
(4 Mar 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Carey-Fineman-Ziter syndrome, OMIM:254940
- Carey-Fineman-Ziter syndrome, MONDO:0009700
|
Version 1.127
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Carey-Fineman-Ziter syndrome, OMIM:254940
- Carey-Fineman-Ziter syndrome, MONDO:0009700
|