All individuals with variants in gene SSBP1

2 entries on 1 page. Showing entries 1 - 2.
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00380092 IR_GH_0183 - - M - Korea, South (Republic) - - - - - OPA Very low visual acuity (HP:0032122); Photophobia (HP:0000613); Large central visual field defect (HP:0001129); Color vision defect (HP:0000551); Optic atrophy (HP:0000648) 1 1 Jinu Han
00417328 Family1/Pt 2 PubMed: Del Doto 2019 Patient 2 (Pt 2) from Family 1: 3-generation family, 2 affected father and son M no Italy - - 0 - - neuropathy, optic Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Myoclonic jerks (HP:0001336); Sensorineural hearing impairment (HP:0000407); Macular atrophy (HP:0007401); Nephropathy (HP:0000112); Vomiting (HP:0002013); Divergent strabismus (HP:0020049); Nystagmus (HP:0000639); Reduced tendon reflex (HP:0001315); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512); Exercise-induced lactic acidemia (HP:0004901); Visual field defect (HP:0001123); chronic kidney disease (HP:0012622); Growth retardation (HP:0001510) 1 2 Mohamed Selhane
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