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Version 3.12
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
- Radboud University Medical Center
Phenotypes
- ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079)
- ANE syndrome
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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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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- ALOPECIA NEUROLOGIC DEFECTS AND ENDOCRINOPATHY SYNDROME 612079
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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
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Alopecia, neurologic defects, and endocrinopathy syndrome,612079
- Intellectual disability
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