Phenotype #0000229736

Individual ID 00302655
Associated disease OPA-9
Phenotype details 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)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 16y (16 years)
Age/Diagnosis -
Age/Onset 06y
Phenotype/Onset -
Protein -
Owner name Khadidja Guehlouz