Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000308359 Individual ID 00416849 Associated disease CSA Phenotype details brain magnetic resonance imaging: leucodystrophy, cerebral and cerebellar atrophy; additional clinical featuresshort stature, truncal hypotonia, spasticity, contractures, scoliosis, deafness, pigmentary retinopathy, mildly enlarged liver and elevated aminotransferase, feeding problems, cryptorchid testis, severe developmental delay, progressive disease course (consanguineous parents) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Cockayne syndrome type A [MIM 216400] Age/Examination 3y (3 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-09-08 10:25:47 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.