Version 3.169
Latest signed off version: v3.0
(22 Mar 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- Expert list
Phenotypes
- Cleft palate, cardiac defects, and mental retardation, OMIM:600987
- Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970
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Version 3.90
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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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MEIS2-related developmental disorder (monoallelic)
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.111
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Expert Review
Phenotypes
- Cleft palate, cardiac defects, and mental retardation, OMIM:600987
- Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.557
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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- Literature
Phenotypes
- Cleft palate, cardiac defects, and mental retardation, OMIM:600987
- Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970
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Version 1.184
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Cleft palate, cardiac defects, and mental retardation, OMIM:600987
- Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970
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