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H00950
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Arthrogryposis, renal dysfunction, and cholestasis
ARC syndrome
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... anemia, ichthyosis, and diarrhoea. Mutations in VPS33B have been found in 75% cases of ARC syndrome. Individuals without VPS33B defects have mutations in VIPAR that forms a functional complex with VPS33B.
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Congenital malformation
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VPS33B [HSA:26276] [KO:K23281]
VIPAR [HSA:63894] [KO:K23287]
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H02274
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Cerebellar atrophy, visual impairment, and psychomotor retardation
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Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) is a rare autosomal recessive disorder. Mutations in the EMC1 gene, an integral part of the ER membrane complex (EMC), have ...
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Congenital malformation
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EMC1 [HSA:23065] [KO:K23562]
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