All individuals with variants in gene FSIP2

8 entries on 1 page. Showing entries 1 - 8.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00225421 30137358-PatFSIP-1 PubMed: Martinez 2018 - M - - Tunisia - - - - SPGF male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF) 1 1 Johan den Dunnen
00225422 30137358-PatFSIP-2 PubMed: Martinez 2018 - M - - Tunisia - - - - SPGF male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF) 1 1 Johan den Dunnen
00225423 30137358-PatFSIP-3 PubMed: Martinez 2018 - M - - Tunisia - - - - SPGF male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF) 1 1 Johan den Dunnen
00225424 30137358-PatFSIP-4 PubMed: Martinez 2018 - M - - Tunisia - - - - SPGF male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF) 1 1 Johan den Dunnen
00225425 30686508-PatFSIP-5 PubMed: Coutton 2019, Journal: Coutton 2019 - M - - Tunisia - - - - SPGF male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF) 1 1 Johan den Dunnen
00225426 30686508-PatFSIP-6 PubMed: Coutton 2019, Journal: Coutton 2019 - M - - Tunisia - - - - SPGF male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF) 1 1 Johan den Dunnen
00225427 30686508-PatFSIP-7 PubMed: Coutton 2019, Journal: Coutton 2019 - M - - Tunisia - - - - SPGF male infertility, severe asthenozoospermia, multiple morphologic abnormalities of sperm flagella (MMAF) 1 1 Johan den Dunnen
00416237 Pat7 PubMed: Fregeau 2016 affected twin brother M - Netherlands - - - - - NDD see paper; ..., no intrauterine growth retardation; intellectual disability/developmental delay/autism; no seizures; hypotonia; no behavioral problems; no spastic quadriparesis; ttention deficit hyperactivity disorder; feeding/swallowing problems; thin corpus callosum; diminished white matter volume; no abnormal cerebellar vermis; no ventriculomegaly; no small pons; no abnormal hippocampus; small anterior commissure; no delayed myelination; no coloboma; no optic nerve atrophy/hypoplasia; no microphthalmia; no Peter’s anomaly; no iris anomalies; no blepharophimosis; no sensorineural hearing loss; no choanal atresia; cleft lip; no ventricular septal defect; no patent foramen ovale; no patent ductus arteriosus; no anomalous pulmonary venous return; no gastroesophageal reflux disease; no duodenal atresia; no annular pancreas; no pyloric hypertrophy; no vesicoureteral reflux; no cystic kidney; no hypospadias; no cryptorchidism; no syndactyly; no hip dysplasia; no scoliosis; no lumbar lordosis; no tall stature (≥98th centile); short stature (≤2nd centile); no macrocephaly (≥98th centile); microcephaly (≤2nd centile); no third fontanel; no frontal bossing; no triangular face; no abnormal eyebrows; no hypotelorism; no hypertelorism; no upslanting palpebral fissures; down-slanting palpebral fissures; no small palpebral fissures; no epicanthal folds; no deeply set eyes; no blepharaophymosis; no abnormal ears; no preauricular pits; no bulbous nose; no anteverted nares; no flat philtrum; no full lips; no small mouth; no furrowed tongue; no abnormal teeth; no broad alveolar ridges; no high arched palate; no micrognathia; no small nipples; no inverted nipples; no small hands; no syndactyly; no 5th finger clinodactyly; no digital anomalies; no nail hypoplasia; abnormal palmar creases; no widow’s peak; no sacral hair tuft; no cafe au lait spots 2 1 Johan den Dunnen
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