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References OMIM Gene GeneReviews HGMD HGNC
last update : 30-09-2020
Symbol GDRM
Location 14q13.2
Name gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
Corresponding gene PPP2R3C
Main clinical features
  • 46,XY complete gonadal dysgenesis in association with extragonadal anomalies, including low birth weight, typical facial gestalt, rod and cone dystrophy
  • also sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay
  • facial dysmorphy with flat face, flat vertex, unusual hair whorls, unruly scalp hair, frontal upsweep, arched and sparse eyebrows, narrow forehead with metopic ridge, bilateral epicanthal folds, thin lips, narrow mouth opening
  • Genetic determination autosomal recessive
    Function/system disorder eye
    kidney and urinary tract
    Type disease