Phenotype #0000199462

Individual ID 00260929
Associated disease DD
Phenotype details developmental delay, hypotonia, infantile spasms, cMRI: corpus callosum anomaly; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; dyskinesia; hypotonia; spasticity; no strabism; abnormal sleep patterns; good social interaction; poor eye contact; 4m-onset epileptic seizures; seizures; infantile spasms, tonic seizures, myoclonic, Lennox-Gastaut syndrome; drug resistant antiepileptic treatment response; G-Tube feeding; gastroesophageal reflux; aspiration; constipation; corpus callosum anomalies; cortical anomalies
Diagnosis/Initial developmental delay
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 62m
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2019-08-09 15:48:35 +02:00 (CEST)
Date last edited N/A

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