Galloway and Mowat reported a rare syndrome primarily affecting the brain and kidneys.

Inheritance: autosomal recessive


Clinical features:

(1) early-onset nephrotic syndrome with focal segmental glomerulosclerosis or collapsing glomerulopathy

(2) microcephaly

(3) variable hiatal hernia

(4) severe developmental delay

(5) structural brain abnormalities (defective cortical development, cerebellar atrophy, hypomyelination)

(6) variable nystagmus

(7) variable ovarian agenesis in females

(8) variable facial dysmorphology (micrognathia, low set ear, large philtrum, other)

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