Global Variome shared LOVD

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Phenotype #0000042918 Individual ID 00056291 Associated disease WDSTS Inheritance Familial, autosomal dominant Diagnosis/Initial - Birth_Details - Diagnosis/Definite - Age/Examination 01y (1 year) Height-Weight-OFC - Phenotype details Thick hair Prominent forehead Thick eyebrows Long eyelashes Short palpebral fissures Palpebral fissures, downslanting Hypertelorism Microphthalmia Wide nasal bridge Micrognathia Broad first digits Tapering fingers 3–4 partial left-hand syndactyly 2-3 toe syndactyly Sacral dimple Small hands and feet pectus excavatum Wide anterior fontanelle Hypertrichosis, back Low hair line Developmental delay Hypotonia Short stature Postnatal growth retardation Intrauterine growth retardation 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 14:41:22 +01:00 (CET) Date last edited 2015-12-11 12:06:18 +01:00 (CET)

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