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| Fetal anomalies v0.4321 | FIBP | Zornitza Stark Marked gene: FIBP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4321 | FIBP | Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4321 | FIBP | Zornitza Stark Classified gene: FIBP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4321 | FIBP | Zornitza Stark Gene: fibp has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | FIBP |
Krithika Murali gene: FIBP was added gene: FIBP was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FIBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FIBP were set to 27183861; 26660953 Phenotypes for gene: FIBP were set to Thauvin-Robinet-Faivre syndrome - MIM#617107 Review for gene: FIBP was set to AMBER Added comment: Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor. 2 unrelated families reported. 27183861 - report one family with 3 affected children. Prenatally relevant phenotypic features include: - congenital heart disease in one child - preterm delivery and bilateral talipes equinovarus 2nd child - cystic kidney disease, nephromegaly and polyhydramnios 3rd child 26660953 - report one child with ventricular septal defect, mitral valve prolapse, renal malrotation with left bifid ureter, macrocephaly and macrosomia noted at birth. Sources: Literature |
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