Severe microcephalyGene: OSGEP
Early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most individuals have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Over 25 families reported.
Sources: Expert list
Created: 31 Aug 2020, 12:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Galloway-Mowat syndrome 3, MIM# 617729
Variants in this GENE are reported as part of current diagnostic practice
gene: OSGEP was added gene: OSGEP was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSGEP were set to 28805828; 28272532 Phenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, MIM# 617729 Review for gene: OSGEP was set to GREEN gene: OSGEP was marked as current diagnostic