Phenotype #0000258190

Individual ID	00362820
Associated disease	WARBM
Diagnosis/Initial	Warburg Micro syndrome
Diagnosis/Definite	WARBM3
Phenotype details	8y-deceased; postnatal growth retardation; postnatal microcephaly; profound developmental delay/mental retardation, 6w-smiled, 1-5y-rolled from side to back, hypotonic , 9m-sit with support; severe axial hypotonia; not walking; 1-2y-lower limb spasticity resulting in contractures of knees and ankles with feet held in equinovarus position, little voluntary lower limb movement, very brisk lower limb reflexes, upper limbs floppy with normal reflexes, finger contractures and muscle wasting on hands; no speech; no seizures; micro-opthalmia; microcornia; bilateral congenital cataracts; persistently constricted pupils; optic nerve atrophy; ERG normal; cortically blind with absent VEP despite early cataract surgery; normal genitalia
Inheritance	Familial, autosomal recessive
Age/Examination	7y6m (7 years, 6 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-04-23 16:48:55 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD