Global Variome shared LOVD

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Phenotype #0000366931 Individual ID 00484153 Associated disease MRXS35 Phenotype details see paper; ..., feeding difficulties, congenital laryngeal stridor, neonatal pneumonia, neonatal hypoglycemia, intellectual disability, psychomotor development delay, speech delay, short stature, craniofacial anomalies, cryptorchidism Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite MRXS35 Age/Examination 09y (9 years) Age/Onset - Phenotype/Onset fetal growth delay Protein - Owner name Ke Wu Database submission license Creative Commons Attribution-NonCommercial 4.0 International Created by Ke Wu Date created 2026-08-28 15:47:36 +02:00 (CEST) Date last edited 2026-08-28 15:48:27 +02:00 (CEST)

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