Global Variome shared LOVD

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

Phenotype #0000310010 Individual ID 00418711 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details speech delay; motor delay; intellectual disability; no autism spectrum disorder; behavioral problems; facial dysmorphism; cryptorchidism; microcephaly, short stature, weight <3%ile, kyphosis, long bone defects, Madelung deformity; Inheritance Isolated (sporadic) Age/Examination - 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 2022-10-04 17:07:48 +02:00 (CEST) Date last edited N/A

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