All individuals with variants in gene MT-ND4

4 entries on 1 page. Showing entries 1 - 4.
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00329131 - PubMed: Li 2020 - ? ? China - - - - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); 1 1 Aude Rocatcher
00427126 T2_10 PubMed: Widgren 2016 haplogroup T2, individual 10 - - - - - - - - retinal disease optic neuropathy 1 1 LOVD
00427140 H_38 PubMed: Widgren 2016 haplogroup H, individual 38 - - - - - - - - retinal disease retinal degeneration and nystagmus 1 1 LOVD
00457916 patient PubMed: Rudy 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States African-American;white - - - - NDD see paper; ..., birth normal growth parameters, poor growth early in life, global developmental delay, microcephaly, EEG abnormal, seizures, mild dyskinetic movements (at 4m), early childhood MRI brain normal, feeding difficulties, reflux, vomiting, constipation, scoliosis, contractures, hearing impairment, cortical visual impairment, exotropia, esotropia, optic nerve atrophy, dyspigmentation skin, irritability, poor sleep 1 1 Johan den Dunnen
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