Galloway-Mowat syndrome 1

Galloway-Mowat syndrome 1 is a rare genetic condition that is catalogued in well-known medical resources. Information on the overall description and full clinical picture of this condition is currently limited. People with this condition may have a range of features and it has been recognized in databases including OMIM (251300) and GARD (15199). The condition is also known by several other names, such as GAMOS1 and Galloway syndrome. Although detailed definition information is not available, the listing of this condition in genetic databases underlines its significance for further study and understanding.

The synonyms for this condition mention features such as cerebellar ataxia (problems with coordination), intellectual disability (or mental retardation), optic atrophy (damage to the optic nerve affecting vision), and skin abnormalities. Other terms refer to microcephaly (a smaller head size), hiatal hernia, and nephrotic syndrome or nephrosis, which suggest kidney involvement. This range of descriptions hints at a multi-system disorder, though detailed symptom information is limited.

Galloway-Mowat syndrome 1 is known to have a genetic basis. There is an association with changes in the WDR73 gene. Some of the synonyms imply an autosomal recessive pattern, indicating that changes in both copies of the gene may be involved in the development of this condition. However, detailed cause information is limited.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.