Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
16q24.3
MFRG is an autosomal recessive syndrome in which microcephaly, unilateral renal agenesis, ambiguous genitalia, and facial dysmorphisms, including severe micrognathia, are observed in most patients. 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. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 618142.1.1 | United Arab Emirates | Male | Yes | Yes | Congestive heart failure; Seizure; Micro... Congestive heart failure; Seizure; Microcephaly; Hypotonia; Micrognathia; Depressed nasal bridge; Micropenis; Hydrocele testis; Abnormality of the kidney; Polydactyly; Clinodactyly; Lissencephaly; Pachygyria; Dysplastic corpus callosum  | NM_001012759.2:c.873G>A | Homozygous | Autosomal, Recessive | Shaheen et al. 2016 | The proband had an o... |
| 618142.1.2 | United Arab Emirates | Male | Yes | Yes | Ventilator dependence with inability to ... Ventilator dependence with inability to wean; Seizure; Bronchomalacia; Agenesis of corpus callosum; Lissencephaly; Hyperreflexia; Strabismus; Camptodactyly; Limitation of joint mobility; Hypertelorism; Microretrognathia; Depressed nasal bridge; Hypotonia | NM_001012759.2:c.873G>A | Homozygous | Autosomal, Recessive | Shaheen et al. 2016 | Double first cousin ... |
| 618142.2.1 | Saudi Arabia | Male | Yes | Yes | Microcephaly ; Agenesis of corpus callos... Microcephaly ; Agenesis of corpus callosum; Unilateral renal agenesis; Abnormal heart morphology; Abnormal facial shape | NM_001012759.2:c.873G>A | Homozygous | Autosomal, Recessive | Shaheen et al. 2019 | |
| 618142.2.2 | Saudi Arabia | Unknown | Yes | Yes | Microcephaly Microcephaly | NM_001012759.2:c.873G>A | Homozygous | Autosomal, Recessive | Shaheen et al. 2019 | Relative of 618142.2... |
| 618142.3 | Saudi Arabia | Male | Yes | No | Microcephaly; Lissencephaly; Diffuse whi... Microcephaly; Lissencephaly; Diffuse white matter abnormalities ; Hypoplasia of the corpus callosum; Widened subarachnoid space ; Small posterior fossa; Abnormal facial shape; Abnormality of the skeletal system; Unilateral renal agenesis; Ambiguous genitalia; Micropenis | NM_001012759.2:c.873G>A | Homozygous | Autosomal, Recessive | Shaheen et al. 2019 | |
| 618142.4 | Saudi Arabia | Unknown | No | Yes | Microcephaly; Brachycephaly; Abnormal fa... Microcephaly; Brachycephaly; Abnormal facial shape; Abnormal heart morphology; Ambiguous genitalia | NM_001012759.2:c.873G>A | Homozygous | Autosomal, Recessive | Shaheen et al. 2019 |