Phenotype #0000231958

Individual ID	00306117
Associated disease	CS
Diagnosis/Initial	Cockayne syndrome type II
Diagnosis/Definite	-
Phenotype details	uneventful antenatal period;4-6m microcephaly, micrognathia, contractures knees and elbows, hypertonic, dislocated radial head, deep-set eyes, skeletal abnormalities, camptodactyly, adducted thumbs, stiff limbs, steeply sloping acetabulae, wrist contracture, slender long bones with mildly flared metaphyses, moderate kyphoscoliosis; brisk reflexes, no feeding problems; MRI brain at birth possible polymicrogyria; NMR 4m-large bilateral subdurals (>2 cm in depth), no major visible malformations; ECG 9m-abnormal; 16m-nystagmus, no other ophthalmic abnormalities, corneas completely clear, no cataracts; 2.5y-deceased
Inheritance	Familial, autosomal recessive
Age/Examination	02y06m (2 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-08 14:06:10 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD