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H01386
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Asparagine synthetase deficiency
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... intellectual disability, progressive cerebral atrophy, and intractable seizures. Recessive mutations in the ASNS gene, encoding asparagine synthetase which catalyzes the synthesis of asparagine from glutamine ...
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Inherited metabolic disorder
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ASNS [HSA:440] [KO:K01953]
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H02728
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Marbach-Schaaf neurodevelopmental syndrome
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Marbach-Schaaf neurodevelopmental syndrome (MASNS) is a neurodevelopmental disorder with global developmental delay, autism spectrum disorder, and apraxia/dyspraxia. It has been reported mutations in PRKAR1B ...
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Congenital malformation
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PRKAR1B [HSA:5575] [KO:K04739]
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