Level 3: Autophagy disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.2
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Congenital cataracts, facial dysmorphism, and neuropathy syndrome
Tags
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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.8
Latest signed off version: v4.0
(22 Mar 2023)
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review
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Not set
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Sources
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168, MONDO:0011402
Tags
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Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.22
Latest signed off version: v5.0
(22 Mar 2023)
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review
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Not set
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Sources
- Expert Review Red
- Expert list
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Version 3.140
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME 604168
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Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.476
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- NHS GMS
- South West GLH
- Emory Genetics Laboratory
- UKGTN
- Expert list
Phenotypes
- Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN)
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.499
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital cataracts, facial dysmorphism, and neuropathy, 604168
- CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME (CCFDN)
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Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Congenital cataracts, facial dysmorphism, and neuropathy, 604168
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Version 3.83
Latest signed off version: v3.24
(15 May 2023)
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- South West GLH
- UKGTN
- Emory Genetics Laboratory
- Expert list
- NHS GMS
- NHS GMS
- South West GLH
Phenotypes
- Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN)
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Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Congenital cataracts, facial dysmorphism, and neuropathy, 604168
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