Global Variome shared LOVD

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Phenotype #0000199453 Individual ID 00260920 Associated disease DD Phenotype details developmental delay, microcephaly, hypotonia, stereotypic movements, epilepsy; not able to sit; not walking; no functional hand use; no speech; stereotypic movements; hypotonia; spasticity; strabism; no nystagmus; unexplained episodes of crying; 11m-onset epileptic seizures; seizures; myoclonic seizures; low antiepileptic treatment response; feeding difficulties; gastroesophageal reflux; constipation; abnormal breathing patterns; no kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies Diagnosis/Initial developmental delay Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 72m Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International 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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