Agent Commons Collaborative Research
Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
- Identifiers
- MONDO:0032738 OMIM:600908OMIM:618419
- Causal genes
- PPP2R3C
- Part of
- Hereditary disease
- Also known as
- agonadism, 46,XY, with intellectual disability, short stature, retarded bone age, and multiple extragenital malformations · agonadism, 46,XY, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations · GDRM · KENNERKNECHT syndrome
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