Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
OMIM: 300195, Gene2Phenotype
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AMMECR1 in Mendeliome
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1 review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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AMMECR1 in Deafness_IsolatedAndComplex
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1 review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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AMMECR1 in Red cell disorders
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1 review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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AMMECR1 in Fetal anomalies
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1 review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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AMMECR1 in Renal Tubulopathies and related disorders
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1 review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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