Version 4.6
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 Red
- Research
Phenotypes
- hydrops fetalis
- cystic hygroma
- bilateral hypoplastic lungs
- hydrocephalus
- hypoplastic cerebellum
- severely reduced skeletal muscle mass or absence
- flexion contractures of all extremities
- micrognathia
- cleft palate
- hydropic placenta
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Hereditary ataxia and cerebellar anomalies - childhood onset
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- hydrops fetalis
- cystic hygroma
- bilateral hypoplastic lungs
- hydrocephalus
- hypoplastic cerebellum
- severely reduced skeletal muscle mass or absence
- flexion contractures of all extremities
- micrognathia
- cleft palate
- hydropic placenta
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Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental 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
- Research
Phenotypes
- polyneuropathy
- erythromelalgia
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Version 3.10
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
Phenotypes
- polyneuropathy
- erythromelalgia
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Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.73
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Research
Phenotypes
- hydrops fetalis
- cystic hygroma
- bilateral hypoplastic lungs
- hydrocephalus
- hypoplastic cerebellum
- severely reduced skeletal muscle mass or absence
- flexion contractures of all extremities
- micrognathia
- cleft palate
- hydropic placenta
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- Research
Phenotypes
- hydrops fetalis
- cystic hygroma
- bilateral hypoplastic lungs
- hydrocephalus
- hypoplastic cerebellum
- severely reduced skeletal muscle mass or absence
- flexion contractures of all extremities
- micrognathia
- cleft palate
- hydropic placenta
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