Amish, Mennonite, and Hutterite
Genetic Disorder Database

Lowe syndrome

Disorder
OMIM #: #309000  (Click to access OMIM database)
Disorder: Lowe syndrome 
Also known as: LOWE OCULOCEREBRORENAL SYNDROME OCRL1 PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE 5-PHOSPHATASE DEFICIENCY 
Clinical
Phenotype: hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, reduced ammonia production by the kidney 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Unknown / Other Mennonite  
Gene: OCRL
Base Change: G>T, at nucleotide 1621
Amino Acid Change:
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

Back