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Spanish Undiagnosed Rare Disease Program-IIER (Instituto de Salud Carlos III), SpainUDP

General information

Spanish Undiagnosed Rare Disease Program-IIER, SpainUDP
Instituto de Salud Carlos III
Ctra. Majadahonda-Pozuelo Km 2,200
Madrid
Madrid
Spain - 28220
https://spainudp.isciii.es/
Organization ID: 508610

Personnel

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 2

Gene

GeneSubmissionsLast Updated
DOHH1Aug 17, 2022
EHMT21Jan 19, 2024
EHMT2-AS11Jan 19, 2024

Condition

NameSubmissionsLast Updated
DOHH related neurodevelopmental disorder1Aug 17, 2022
Kleefstra-like syndrome1Jan 19, 2024