Global Variome shared LOVD

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

Phenotype #0000325301 Individual ID 00435064 Associated disease NDD Diagnosis/Initial NDD Diagnosis/Definite - Phenotype details no complications pregnancy; birth 38w; neonatal complications; no failure to thrive; trunk adiposity; mild/moderate intellectual disability/developmental delay; motor delay; speech delay; no behavioral disorders; hypotonia; no seizures; MRI brain normal; no hearing loss; normal vision; no cardiac anomalies; urogenital/kidney anomalies; scoliosis; no pectus deformity; facial features Inheritance Isolated (sporadic) Age/Examination 2y (2 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 2023-05-05 17:09:26 +02:00 (CEST) Date last edited N/A

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