Phenotype #0000199452

Individual ID 00260919
Associated disease DD
Phenotype details developmental delay, microcephaly, epilepsy, strabism, cMRI: corpus callosum anomaly; not able to sit; not walking; no functional hand use; 54m-started expressive speech, 4 words; stereotypic movements; dyskinesia; hypotonia; spasticity; strabism; no nystagmus; abnormal sleep patterns; social interaction; no eye contact; unexplained episodes of crying; 6m-onset epileptic seizures; seizures; focal-tonic, tonic-clonic generalised seizures; antiepileptic treatment response; feeding difficulties; no gastroesophageal reflux; constipation; hypersalivation; bruxism; abnormal breathing patterns; corpus callosum anomalies; cortical anomalies
Diagnosis/Initial developmental delay
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 39m
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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