Phenotype #0000332698

Individual ID	00443356
Associated disease	NDD
Diagnosis/Initial	neurodevelopmental delay
Diagnosis/Definite	-
Phenotype details	birth at term, weight 3.1 kg (27th), height 47 cm (10th), OFC 33 cm (the 10-25th); weight 23.2 kg (53rd), height 102.5 (below the 1st), ; severe global developmental delay/intellectual disability; single words; not walking; spasticity; cerebellar ataxia; Supported ataxic and spastic gait; tremor; hand tremor (at rest, posture, movement); 3y-seizures myoclonic tonic; EEG multifocal spike waves complexes ; no aggression; no self-injury; no tantrum temper; no sleep disturbance; coarse face; deep set eyes; no lateral upslanting palpebral fissures; broad nose, depressed nasal bridge; no thin upper lip; everted lower lip; no prognathia; MRI brain Hypoplastic corpus callosum and incomplete hippocampal rotation
Inheritance	Familial, autosomal recessive
Age/Examination	7y (7 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