Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia And Hydranencephaly

Preferred Label : Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia And Hydranencephaly;

NCIt synonyms : MARCH;

NCIt definition : A lethal autosomal recessive condition caused by mutation(s) in the CEP55 gene, encoding centrosomal protein of 55 kDa. It is characterized by renal dysplasia, anhydramnios, hydrancephaly, cerebellar hypoplasia, and multinucleated neurons in remaining brain tissue.;

Details

Origin ID

C206523;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CEP55 Gene [NCIt concept]

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