Phenotype #0000310068

Individual ID 00418772
Associated disease NPHP1
Phenotype details 1y: diagnosed with ocular motor apraxia; 10y: defect in the production of voluntary saccades and an impairment of horizontal attraction movements with compensatory jerking head movements; strabismus convergens alternans and hyperopia; no other neurologic abnormality; 9y: nephronophthisis: polyuria, polydipsia, anemia (9.2 g/dL), and elevated serum creatinine (159 umol/L).; renal ultrasonography: high echogenicity and small cysts at the corticomedullary junction; 11y: kidney allograft; no retinitis pigmentosa and optical nerve coloboma
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite nephronophthisis with ocular motor apraxia type Cogan
Age/Examination 13y (13 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-10-06 12:46:10 +02:00 (CEST)
Date last edited N/A

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