Global Variome shared LOVD

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Phenotype #0000024952 Individual ID 00028883 Associated disease MNS Phenotype details see paper; born at term, birth weight 4.050 kg, pregnancy complicated by polyhydramnios; frequent respiratory infections dominated early childhood; childhood developed pes cavus, progressive limitation movement hips/knees/elbows, thoracic hypoplasia, mixed conductive and sensorineural hearing loss, cognitive function unimpaired; 32y-limited mobility, employment as office manager, frequent intercurrent respiratory infections (no stridor or fixed airway obstruction); teeth small, brittle, thin enamel; CT-scan bilateral deficiency modiolus, sclerosis incus/stapes basis hearing loss; height 143 cm; supraorbital hyperostosis, exorbitism, full eyebrows, low anterior hairline (fig. 3); ulnar deviation wrists, spatulate thumbs, chin small; thorax hypoplastic, no scoliosis, ... Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 32y (32 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 2015-01-03 10:56:48 +01:00 (CET) Date last edited N/A

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