Phenotype #0000332739

Individual ID	00443397
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	30y-deceased; birth at term, weight normal, height normal, OFC normal; height 80th, ; global developmental delay/intellectual disability; speech delay; spasticity; spasticity in upper limbs; spasticity in lower limbs; cerebellar ataxia; no upper limb ataxia; Spastic-ataxic; no tremor; no head tremor; no head tremor; stooping of the body; lateral flexion body; no scoliosis; no leg/foot dystonia; postural instability; no seizures; EEG normal; autism; aggression; tantrum temper; coarse face; deep set eyes; lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; no thin upper lip; everted lower lip; no prognathia; Obesity;
Inheritance	Familial, autosomal recessive
Age/Examination	22y (22 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