Global Variome shared LOVD

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Phenotype #0000351269 Individual ID 00465822 Associated disease ? Diagnosis/Initial joint laxity Diagnosis/Definite 3M1 Phenotype details see paper; ..., Significant skin and joint laxity, developmental delay, failure to thrive, severe proportionate short stature with relative macrocephaly, dysmorphic features (prominent forehead, hypoplastic midface, depressed nasal root, anteverted nares and full lips), hyperlordosis, thin slender long tubular bones, small pelvises with winged iliac bones, prominent heels Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-06-07 12:17:17 +02:00 (CEST) Date last edited N/A

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