Global Variome shared LOVD

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

Phenotype #0000199447 Individual ID 00260914 Associated disease DD Phenotype details developmental delay, microcephaly, dyskinesia, cMRI: corpus callosum anomaly; not walking; functional hand use; 26m-started expressive speech, 6 words; stereotypic movements; dyskinesia; hypotonia; no spasticity; strabism; no nystagmus; abnormal sleep patterns; social interaction; poor eye contact; unexplained episodes of crying; no seizures; no antiepileptic treatment; feeding difficulties; no gastroesophageal reflux; constipation; hypersalivation; bruxism; no abnormal breathing patterns; kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies Diagnosis/Initial developmental delay Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 40m 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.