All individuals with variants in gene GFER

10 entries on 1 page. Showing entries 1 - 10.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
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Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00073635 - - Two siblings (one boy and one girl) - no - - - - - - MYOP Muscular hypotrophy, cognitive and psychomotor delay, epilepsy, congenital cataract, scoliosis, lactic acidosis and deficiency of the mitochondrial respiratory chain 2 2 Sophie Nambot
00073639 - - Two siblings (one boy and one girl) - no - - - - - - MYOP muscular hypotrophy and hypotonia, psychomotor delay, ID, congenital cataract,lactic acidosis, mitochondrial disorders 2 2 Sophie Nambot
00074417 - PubMed: Di Fonzo 2009, Journal: Di Fonzo 2009 patient II2 M yes - Moroccan >17y - - - MPMCD psychomotor delay (HP:0001263), progressive visual deficit (HP:0000529), retinal detachment (HP:0000541), severe visual impairment (HP:0001141), severe progressive hearing loss (HP:0001730), bilateral ptosis (HP:0001488), generalized muscular hypotonia (HP:0001290), lower limb hypotrophy (HP:0008944), rotatory nystagmus (HP:0001583), no proximal (-HP:0003701) and distal muscle weakness (-HP:0002460), reduced tendon reflexes (HP:0001315), hypoferritinemia (HP:?), hyperamylasemia (HP:?), hyperCKemia (HP:?), thin corpus callosum (HP:0002079) 1 1 Jamie Zeegers
00074418 - PubMed: Di Fonzo 2009, Journal: Di Fonzo 2009 patient II4 M yes Morocco Moroccan >07y - - - MPMCD congenital cataract (HP:0000519), progressive axial hypotonia (HP:0008936), unilateral ptosis (HP:0007687), slight sensorineural hearing loss (HP:0000407), diffuse muscle hypotrophy (HP:0003202), hypotonia (HP:0001252), low serum ferritin (HP:?) 1 1 Jamie Zeegers
00074419 - PubMed: Di Fonzo 2009, Journal: Di Fonzo 2009 2-generation family, 3 affecteds (3M), unaffected heterozygous carrier parents, patient II5 M yes Morocco Moroccan >03y - - - MPMCD congenital cataract (HP:0000519), slight axial hypotonia (HP:0000519) 1 3 Jamie Zeegers
00074420 - PubMed: Calderwood 2016, Journal: Calderwood 2016 No family history F - - - >19y - - - encephalomyopathy, mitochondrial adrenal insufficiency (HP:0000846), moderately cognitively delayed (HP:0001263), muscle weakness (HP:0001324), wide-based gait (HP:0002136), neck hyperextension (HP:?), truncal instability (HP:?), restrictive lung disease (HP:0002091), elevated plasma lactate levels (HP:?), 2 1 Jamie Zeegers
00434130 Fam2PatII1 PubMed: Li 2019 2-generation family, affected mother/2 daughters F - China - - - - - CTRCT see paper; ..., nuclear/lamellar cataract, blue punctate opacities 1 3 Johan den Dunnen
00434131 Fam3PatIV1 PubMed: Li 2019 4-generation family, 5 affected (5F) F - China - - - - - CTRCT see paper; ..., total cataract 1 5 Johan den Dunnen
00434132 Fam4PatIV1 PubMed: Li 2019 4-generation family, 4 affected (2F, 2M) F - China - - - - - CTRCT see paper; ..., total cataract 1 4 Johan den Dunnen
00440357 Pat41;PED1906.1 PubMed: Thevenon 2016, PubMed: Nambot 2018 family, several affected M - France - - - - - NDD epilepsy; epileptic encephalopathy 2 1 Johan den Dunnen
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