Global Variome shared LOVD

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Phenotype #0000036691 Individual ID 00049915 Associated disease DBS;ADCL Phenotype details initial diagnosis connective tissue disorder; thin translucent skin, no hip dislocation, no adducted thumb, no osteopenia, no Wormian bones, no brain anomalies, cranial vessel tortuosity, no autism, brisk reflexes?, os odontoideum, disharmonic bone age; dysmorphic face (HP:0001999) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 06y (6 years) Growth retardation prenatal;retardation postnatal Age/Diagnosis - Age/Onset - Skin/Wrinkling skin premature Phenotype/Onset - Hypermobility joint Hernia hernia Foot/Abnormality no Scoliosis no Head/Fontanel no Head/Size microcephaly Development global Abdominal/Symptoms problems Hypotonia generalized Eye/Lens/Cataract cataract Protein - Eye/Movement normal Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-09-15 21:03:02 +02:00 (CEST) Date last edited 2025-02-03 11:01:56 +01:00 (CET)

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