Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3
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review
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Not set
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Sources
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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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert Review Green
- UKGTN
Phenotypes
- Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541
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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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
Phenotypes
- Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- MENTAL RETARDATION, X-LINKED 3
- COBALAMIN DISORDER
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MENTAL RETARDATION, X-LINKED 3 309541
- COBALAMIN DISORDER
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 5.10
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type), 309541
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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
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Mental retardation, X-linked 3, 309541
- MENTAL RETARDATION, X-LINKED 3
- MRX3
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Green
- London North GLH
Phenotypes
- Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541
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Version 1.184
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541
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