Level 3: Autoimmune skin disorders
Level 2: Dermatological disorders
Version 1.12
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
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Version 3.28
Latest signed off version: v3.2
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
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Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.14
Latest signed off version: v4.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review
Phenotypes
- Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
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Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.7
Latest signed off version: v5.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Other
Phenotypes
- Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Literature
Phenotypes
- Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis)
- Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis)
- Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.13
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert Review
Phenotypes
- Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- London North GLH
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834
- Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
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