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Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 2.65
Latest signed off version: v2.3
(4 Mar 2020)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075
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Version 1.905
Latest signed off version: v1.92
(21 Aug 2020)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
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Version 2.78
Latest signed off version: v2.2
(13 Feb 2020)
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 Amber
Phenotypes
- MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS
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