trafficking protein particle complex 2
OMIM: 300202, Gene2Phenotype
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TRAPPC2 in Multiple Epiphyseal Dysplasia
Level 3: Skeletal dysplasias
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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TRAPPC2 in Limb disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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TRAPPC2 in Skeletal dysplasia
Level 3: Skeletal dysplasias
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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TRAPPC2 in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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TRAPPC2 in DDG2P
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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TRAPPC2 in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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TRAPPC2 in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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