Global Variome shared LOVD

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Phenotype #0000236675 Individual ID 00311428 Associated disease NDD Diagnosis/Initial developmental delay Diagnosis/Definite - Phenotype details no perinatal history; severe developmental delay/intellectual disability; behavioral problems; cryptorchidism, blocked nasolacrimal duct; normal stature (SD -0.59), normal weight (SD -0.44), microcephaly (SD 1.72); craniofacial dysmorphisms; constipation Inheritance Isolated (sporadic) Age/Examination 7y (7 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-09-25 11:13:06 +02:00 (CEST) Date last edited N/A

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