Global Variome shared LOVD

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Phenotype #0000042917 Individual ID 00056290 Associated disease WDSTS Inheritance Familial, autosomal dominant Diagnosis/Initial - Birth_Details - Diagnosis/Definite - Age/Examination 00y20m (20 months) Height-Weight-OFC - Phenotype details Thick hair Thick eyebrows Long eyelashes Short palpebral fissures Palpebral fissures, downslanting Hypertelorism Strabismus Wide nasal bridge Depressed nasal bridge Bulbous nose Upper vermillion border, thin Abnormal dentition Tapering fingers Clinodactyly Sacral dimple Feeding difficulties Developmental delay Intellectual disability Hypotonia Urinary tract infections Short stature Postnatal growth retardation Microcephaly Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Guorui Hu Database submission license No license selected Created by Guorui Hu Date created 2015-12-09 14:32:44 +01:00 (CET) Date last edited 2015-12-11 11:56:56 +01:00 (CET)

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