Global Variome shared LOVD

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Phenotype #0000355020 Individual ID 00469875 Associated disease skeletal dysplasia Diagnosis/Initial skeletal dysplasia Diagnosis/Definite EKNS Phenotype details see paper; ..., delayed motor development, short stature, unerupted teeth; 6y5m-weight 13.3 kg (−8.7 SD), height 80 cm (−7.8 SD), OFC 50 cm (−0.54 SD); undermodeling tubular bones, broad distal ends of radius/ulna, remarkable delay in carpal ossification; short/broad undermodeled metacarpals/phalanges, small metacarpal epiphyses, round phalangeal epiphyses, angel shaped middle phalanges second to fourth fingers; Arnold-Chiari malformation type Inheritance Familial, autosomal recessive Age/Examination 06y05m (6 years, 5 months) 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 2025-11-20 12:33:13 +01:00 (CET) Date last edited 2025-11-23 14:41:52 +01:00 (CET)

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