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
Created by	Anna Tracewska
Date created	2022-09-08 10:25:47 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD