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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- ClinGen
Phenotypes
- mild to moderate cognitive deficit
- Diamond-Blackfan anemia
- intellectual disability
- 614294
- anemia
- congenital diaphragmatic hernia
- cryptorchidism in males
- severe speech and psychomotor delay
- mental retardation
- postnatal short stature
- behavioral problem
- mild dysmorphic feature
- developmental delay
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