Phenotype #0000166819

Individual ID 00218383
Associated disease GA1
Inheritance Familial, autosomal recessive
Age/Onset -
Diagnosis/Initial -
Age/Examination 07y09m (7 years, 9 months)
Diagnosis/Definite -
Age/Diagnosis -
Phenotype/Onset -
Phenotype details Starting at age 05m: pendular nystagmus (HP:0012043) with reduction of vision, oscillopsia, exotropia (HP:0000577), refractive error (HP:0000539) and amblyopia (HP:0000646); vision field examination: bilateral central scotoma (HP:0000603); fundus examination/ MRI: bilateral optic atrophy (HP:0000648); macrocephaly (HP:0000256), intelligence normal; MRI (age ≤ 03m15d): Widening of Sylvian fissure; MRI(follow-up): T2 hyperintensity in supratentorial white matter, (for more details on MRI see full text)
Protein -
Biochem GA(urine) & 3-OH-GA(urine): elevated; glutarylcarnitine: 1.67µM
Enzyme/Activity -
Owner name Isabelle Rinke
Database submission license No license selected
Created by Isabelle Rinke
Date created 2019-01-25 13:23:32 +01:00 (CET)
Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.