Global Variome shared LOVD

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Phenotype #0000199676 Individual ID 00261170 Associated disease DD Phenotype details developmental delay/intellectual disability (HP:0012758/HP:0001249); autism spectrum disorder (HP:0000729); attention deficit hyperactivity disorder (HP:0007018); no stereotypic behavior (-HP:0000733); seizures (HP:0001250); no muscular hypotonia (-HP:0001252); no ataxia (-HP:0001251); abnormal brain MRI (HP:0012443); no ventriculomegaly (-HP:0002119); no hydrocephalus (-HP:0000238); mildly short and thick; subtle cortical dysplasia (HP:0002539); no migration defect (-HP:0002269); no abnormal prenatal brain imaging; kyphosis, mild scoliosis; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); Tourette's, a mood disorder, oppositional defiant disorder, dysfunction voiding of urine, atypical nevus of cheek; persistent hyperbilirubinemia Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 16y (16 years) 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 2019-08-11 12:19:47 +02:00 (CEST) Date last edited N/A

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