Global Variome shared LOVD

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

Phenotype #0000326333 Individual ID 00436152 Associated disease - Phenotype details hypotonia, severe scoliosis, arched palate, dental crowding, short lingual frenulum, moderately long fingers, musculoskeletal defects, behavioral abnormalities Diagnosis/Initial DEHMBA syndrome Inheritance - Diagnosis/Definite DEHMBA syndrome Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Lucia Micale Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Lucia Micale Date created 2023-08-29 16:48:19 +02:00 (CEST) Date last edited 2023-08-30 09:29:00 +02:00 (CEST)

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