Galloway–Mowat syndrome

Also known as: Microcephaly with nephrotic syndrome

Microcephaly, brain malformation and steroid-resistant nephrotic syndrome.

Medical specialty: Nephrology
Subspecialty: Nephrology / Hereditary kidney disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: GON7, LAGE3, NUP107, NUP133, NUP85, NUP93, OSGEP, TP53RK, TPRKB, WDR4, WDR73

Etiology & mechanism

KEOPS complex and other gene defects.

Gene(s) involved (11)

GON7LAGE3NUP107NUP133NUP85NUP93OSGEPTP53RKTPRKBWDR4WDR73

Symptoms & signs (6)

developmental delaydysmorphismhiatal herniamicrocephalynephrotic syndromeseizures

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.