Global Variome shared LOVD

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Phenotype #0000351290 Individual ID 00465843 Associated disease ? Diagnosis/Initial joint laxity Diagnosis/Definite - Phenotype details see paper; ..., Preand postnatal growth retardation, developmental delay, dysmorphic features (progeroid appearance, large anterior fontanel, widely separated sutures, dilated skull veins with fine sparse hair, prominent forehead, large protruding lowset ears, depressed nasal bridge with pinched nose, thin upper lip vermilion and micrognathia), eye abnormalities (buphthalmos with corneal clouding, glaucoma, bilateral anterior polar cataract), skin abnormalities (thin, lax, wrinkled and translucent with prominent superficial veins giving a reticular pattern), adducted thumbs with overlapping fingers bilaterally, flexion deformities of the elbows and left knee, bilateral talipes calcaneovalgus, history of seizures, atrophic appearance of the corpus callosum, mild gastroesophageal reflux, recurrent chest infections, patent foramen ovale, bilateral renal tubular ectasia, with horseshoe kidneys, dislocation both hip joints, hypertrophied clitoris 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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