Global Variome shared LOVD

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Phenotype #0000042927 Individual ID 00056308 Associated disease WDSTS Inheritance Isolated (sporadic) Diagnosis/Initial - Birth_Details - Diagnosis/Definite - Age/Examination 09y06m (9 years, 6 months) Height-Weight-OFC - Phenotype details Normal head circumference Short stature Thick hair Eyebrow lateral flare Thick eyebrows Arched eyebrows Long eyelashes Long palpebral fissures Palpebral fissures, downslanting Palpebral fissures, vertically narrow Hypertelorism Epicanthus Ectropion of lateral third of lower eyelid Strabismus Wide nasal bridge Depressed nasal tip Cupid’s bow, exaggerated Upper vermillion border, thin Micrognathia Broad first digits Clinodactyly Long hallux Small hands Puffy hands Hypertrichosis Hypertrichosis cubiti Hypertrichosis, back Hypertrichosis, lower limbs Prominent digit pads Developmental delay Intellectual disability Hyperactivity CNS malformation 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 15:55:02 +01:00 (CET) Date last edited 2015-12-13 03:09:23 +01:00 (CET)

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