Phenotype #0000332721

Individual ID	00443379
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth weight 3.4 kg (48th); severe global developmental delay/intellectual disability; single words; sit independently; walks; limited upgaze; spasticity; spasticity in lower limbs; cerebellar ataxia; upper limb ataxia; abnormal gait; tremor; head tremor; hand tremor (at rest, posture, movement); stooping of the body; lateral flexion body; Kyphoscoliosis; coarse face; thin upper lip; Small hands and feet; MRI brain Agenesis of the corpus callosum
Inheritance	Familial, autosomal recessive
Age/Examination	37y (37 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-11-25 19:15:23 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD