Disease #04344 (OPA-9 (atrophy, optic, type 9 (OPA-9)), OMIM:616289)

Official abbreviation OPA-9
Name atrophy, optic, type 9 (OPA-9)
OMIM ID 616289
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene ACO2
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00302655 Subject 1 PubMed: Gibson 2020 2-generation family, 3 carriers, 2 affected M no United States Hispanic ancestry - 0 - - neuropathy, optic, OPA-9 Strabismus (HP:0000486); Abnormality of vision (HP:0000504); Myopia (HP:0000545); Visual loss (HP:0000572); Exotropia (HP:0000577); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Tonsillitis (HP:0011110); Temporal optic disc pallor (HP:0012511); Abnormal best corrected visual acuity test (HP:0030534); Pituitary gland cyst (HP:0410278) ACO2 ACO2 2 2 Khadidja Guehlouz
00302656 Subject 2 PubMed: Gibson 2020 2-generation family, 3 carriers, 2 affected F no United States Hispanic ancestry - 0 - - neuropathy, optic, OPA-9 Astigmatism (HP:0000483); Visual impairment (HP:0000505); Myopia (HP:0000545); Color vision defect (HP:0000551); Visual loss (HP:0000572); Exotropia (HP:0000577); Amblyopia (HP:0000646); Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Juvenile onset (HP:0003621); Hypoplasia of the optic tract (HP:0007096); Abnormality of optic chiasm morphology (HP:0025163); Abnormal best corrected visual acuity test (HP:0030534) ACO2 ACO2 2 1 Khadidja Guehlouz
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