zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2
OMIM: 300028,
ClinGen,
DECIPHER
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ZRSR2 in Anophthalmia_Microphthalmia_Coloboma
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2 reviews | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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ZRSR2 in Holoprosencephaly and septo-optic dysplasia
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2 reviews | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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ZRSR2 in Polydactyly
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2 reviews | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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ZRSR2 in Pituitary hormone deficiency
Level 3: Pituitary disorders
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2 reviews | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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ZRSR2 in Clefting disorders
Level 3: Dysmorphic disorders
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2 reviews | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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