Global Variome shared LOVD

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Phenotype #0000325659 Individual ID 00435470 Associated disease skeletal dysplasia Diagnosis/Initial - Diagnosis/Definite RLSDF Phenotype details length 42nd centile, OFC 32nd centile; Rhizomelic shortening of arms; proximally placed thumbs; normal feet; long facies with midface hypoplasia, high and towering forehead, hypertelomoric eyes with epicanthus, thin upper lip, long philtrum, scooped nosal bridge with broad root, flat tip and flared nostrils; no sloping shoulders; normal head shape, fontaneles closed, micrognathic chin; coarse hair, hyperextensible joints, narrow palate Inheritance Familial, autosomal recessive Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-07-31 14:44:28 +02:00 (CEST) Date last edited N/A

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