All individuals with variants in gene NFIA

12 entries on 1 page. Showing entries 1 - 12.
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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     
00269492 Pat1 PubMed: Mikhail 2011, Journal: Mikhail 2011 - F - - - - - - - ? see paper; ..., intellectual disability, bipolar disorder, depression, incapable of making own decisions, no seizures, macrocephaly, high-forehead, hypotelorism, high palate, pointed chin, webbed neck, scoliosis, hydrocephalus, hypoplasia corpus callosum 1 1 Johan den Dunnen
00436596 - - - M no - - - - - - BRMUTD Frontal bossing 1 1 Gianluca Dini
00436597 - - - F no - - - - - - BRMUTD - 1 1 Gianluca Dini
00436598 - - - M no - - - - - - BRMUTD - 1 1 Gianluca Dini
00436623 - - - M no - - - - - - BRMUTD - 1 1 Gianluca Dini
00436628 patient PubMed: Negishi 2015 2-generation family, 1 affected, unaffected non-carrier parents M no Japan - - - - - ? see paper; ..., 28w-callosal agenesis; 41w-born by cesarean section due to enlargement head circumference, post-term pregnancy 1 1 Johan den Dunnen
00436629 patient PubMed: Rao 2014 2-generation family, 1 affected, unaffected non-carrier parents F no Australia - - - - - ? see paper; ..., hypoplastic corpus callosum, craniofacial abnormalities, urinary tract defects, developmental delay, metopic synostosis, macroscopic haemoglobinuria; hypoplasia corpus callosum, ventriculomegaly, metopic craniosynostoses, macrocephaly, developmental delay, dysmorphic features, no seizures, no Chiari I malformation, no tethered spinal cord, cutis marmorata, muscular hypotonia (improving); ultra sound pelvi-ureteric kinking; macroscopic haematuria 1 1 Johan den Dunnen
00436630 FamPatII1 PubMed: Nyboe 2015 2-generation family, 4 affected (F, 3M) father/daughter, 2 sons) F - Denmark - - - - - CRS see paper; ..., hypoplasia or abscent corpus callosum, ventriculomegaly, lambdoid craniosynostosis, macrocephaly, develomental delay, dysmorphic features, no urinary tract defects 1 4 Johan den Dunnen
00436631 FamPatII2 PubMed: Nyboe 2015 brother M - Denmark - - - - - CRS see paper; ..., hypoplasia or abscent corpus callosum, ventriculomegaly, no craniosynostosis, macrocephaly, develomental delay, dysmorphic features, urinary tract defects 1 1 Johan den Dunnen
00436632 FamPatII3 PubMed: Nyboe 2015 brother M - Denmark - - - - - CRS see paper; ..., hypoplasia or abscent corpus callosum, ventriculomegaly, lambdoid craniosynostosis, macrocephaly, develomental delay, dysmorphic features, no urinary tract defects 1 1 Johan den Dunnen
00436633 FamPatI1 PubMed: Nyboe 2015 father M - Denmark - - - - - CRS see paper; ..., hypoplasia or abscent corpus callosum, no ventriculomegaly, sagittal craniosynostosis, macrocephaly, no develomental delay, no dysmorphic features, urinary tract defects 1 1 Johan den Dunnen
00457834 311330 - - F no Germany - - - - - BRMUTD Myotonia, Macrocephaly, Axial hypotonia, Gait disturbance, Frontal bossing, Low-set ears, Wide intermamillary distance, Hydrocephalus, Motor delay, Short attention span 1 1 Andreas Laner
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