Global Variome shared LOVD

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Phenotype #0000199456 Individual ID 00260923 Associated disease DD Phenotype details developmental delay, microcephaly, cMRI: simplified gyral pattern; not able to sit; not walking; no functional hand use; no speech; no stereotypic movements; hypotonia; strabism; no nystagmus; abnormal sleep patterns; good eye contact; no seizures; G-Tube feeding; gastroesophageal reflux; no abnormal breathing patterns; no kyphoscoliosis or scoliosis; corpus callosum anomalies; cortical anomalies Diagnosis/Initial developmental delay Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 30m 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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