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Ontology Browser

Term:
Galloway-Mowat Syndrome 1 (DOID:9005778)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Galloway-Mowat Syndrome 1  
Galloway-Mowat syndrome is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset of microcephaly and central nervous system abnormalities resulting in severely delayed psychomotor development. Brain imaging shows cerebellar atrophy and sometimes cerebral atrophy. More variable features include optic atrophy, movement disorders, seizures, and nephrotic syndrome. Galloway-Mowat syndrome-1 (GAMOS1) is caused by homozygous mutation in the WDR73 gene on chromosome 15q25. (OMIM)
Galloway-Mowat syndrome 2  
Galloway-Mowat syndrome 3  
Galloway-Mowat syndrome 4  
Galloway-Mowat syndrome 5  
Galloway-Mowat Syndrome 6  
Galloway-Mowat Syndrome 7  
Galloway-Mowat Syndrome 8  

Synonyms
Exact Synonyms: GAMOS1 ;   SCAR5 ;   SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5
Primary IDs: OMIM:251300

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.