Phenotype #0000199461

Individual ID	00260928
Associated disease	DD
Phenotype details	profound developmental delay, epilepsy, cleft palate, cMRI: corpus callosum anomalie; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; no dyskinesia; hypotonia; spasticity; strabism; no nystagmus; abnormal sleep patterns; no social interaction; poor eye contact; 4m-onset epileptic seizures; seizures; infantile spasms, tonic clonic seizures, absence, Lennox-Gastaut syndrome; drug resistant antiepileptic treatment response; G-Tube feeding; no gastroesophageal reflux; aspiration; constipation; no hypersalivation; no bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies
Diagnosis/Initial	developmental delay
Inheritance	Isolated (sporadic)
Diagnosis/Definite	-
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-08-09 15:48:35 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD