A congenital stationary night blindness characterized by autosomal recessive inheritance that has material basis in homozygous mutation in the GNAT1 gene on chromosome 3p21.
Comprehensive, easy-to-understand information about this condition
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polymicrogyria
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immunodeficiency-centromeric instability-facial anomalies syndrome
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congenital myasthenic syndrome with tubular aggregates
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prenatal-onset spinal muscular atrophy with congenital bone fractures
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hypercalcemia, infantile
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Ochoa syndrome
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