NLRP2
NLR family pyrin domain containing 2
OMIM: 609364, Gene2Phenotype
3 panels
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NLRP2 in Segmental overgrowth disorders - Deep sequencing
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review | BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
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NLRP2 in Multi Locus Imprinting Disorder (MLID)
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
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Phenotypes
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NLRP2 in Monogenic short stature
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review | BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
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