Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000199458 Individual ID 00260925 Associated disease DD Phenotype details developmental delay, microcephaly, hypotonia; 11m-unassisted sitting; 30m-walking; assisted walking; functional hand use; no speech; no stereotypic movements; no dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; good social interaction; good eye contact; no unexplained episodes of crying; 34m-onset epileptic seizures; seizures; febrile seizures; good antiepileptic treatment response; no feeding difficulties; no gastroesophageal reflux; no aspiration; no constipation; no hypersalivation; bruxism; no abnormal breathing patterns; no kyphoscoliosis or scoliosis Diagnosis/Initial developmental delay Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 34m 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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