Global Variome shared LOVD

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Phenotype #0000042919 Individual ID 00056292 Associated disease WDSTS Inheritance Familial, autosomal dominant Diagnosis/Initial - Birth_Details - Diagnosis/Definite - Age/Examination 04y03m (4 years, 3 months) Height-Weight-OFC - Phenotype details Thick hair Prominent forehead Thick eyebrows Long eyelashes Ptosis Hypertelorism Slightly low hanging columella Small ears Abnormal dentition Micrognathia Short fifth finger Mild fifth finger brachyclinodactyly Rib anomalies Congenital hip dysplasia Doughy and redundant skin on her hands Advanced Bone age Feeding difficulties Nasogastric and percutaneous endoscopic gastrostomy feeding Hypertrichosis Hypertrichosis, back Low hair line Developmental delay Intellectual disability Hypotonia CNS malformation Cardiac anomaly Normal TSH, T4, GH, IGF-1, IGFBP3, 17OHP, LH, E2 and T levels Ureterocele Urinary tract infections Grade IV vesicoureteral reflux and a left ureterocele Short stature 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 14:52:26 +01:00 (CET) Date last edited 2015-12-11 12:14:40 +01:00 (CET)

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