Global Variome shared LOVD

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Phenotype #0000042920 Individual ID 00056297 Associated disease WDSTS Inheritance Familial, autosomal dominant Diagnosis/Initial - Birth_Details - Diagnosis/Definite - Age/Examination 07y06m (7 years, 6 months) Height-Weight-OFC - Phenotype details Intrauterine growth retardation Postnatal growth retardation Short palpebral fissures Hypertelorism Epicanthus Wide nasal bridge/broad nasal tip Micrognathia Rib anomalies Delayed bone age Constipation Low hair line Developmental delay Intellectual disability Hypotonia Ambiguous genitalia Discordance between gender and karyotype Abnormal gonadal development Normal TSH, T4, GH, LH, high FSH, E2, low T levels Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Guorui Hu Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International Created by Guorui Hu Date created 2015-12-09 15:03:38 +01:00 (CET) Date last edited 2015-12-11 12:30:23 +01:00 (CET)

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