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Arthrogryposis; Hydrops Fetalis; Microcephaly; Migraine with Aura; Sodium-Potassium-Exchanging ATPase
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information resource reference
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Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. Eur J Med Genet. 2020 Jan; 63(1):103624.
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Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.
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