| Disease ID | Source | Name | Description |
| 618142 | OMIM | Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MFRG) | An autosomal dominant syndrome characterized by primary microcephaly, ambiguous male genitalia, dysmorphic facies, polydactyly, and unilateral renal agenesis. Variable brain, cardiac, and skeletal anomalies are present, including corpus callosum agenesis or dysgenesis, lissencephaly, atrial and ventricular septal defects, patent ductus arteriosus, hypoplastic right ventricle, and joint contractures. The disease may be caused by variants affecting the gene represented in this entry. A homozygous synonymous variant at codon 247 has been identified in 3 consanguineous families. This variant impairs normal splicing, causing a frameshift resulting in a premature termination codon. |