Global Variome shared LOVD

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Phenotype #0000042701 Individual ID 00056045 Associated disease MPPH2 Phenotype details 2y5m OFC +6; no overgrowth (-HP:0001548), no asymmetry, no vascular malformations, no polydactyly (-HP:0010442), no syndactyly (-HP:0001159), connective tissue dysplasia (skin laxity, joint hypermobility, thick doughy subcutaneous tissue), hydrocephalus (HP:0000238), ventriculomegaly (HP:0002119), no cerebellar tonsillar ectopia, polymicrogyria (HP:0002126) Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite - Age/Examination 02y05m (2 years, 5 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2015-12-08 11:47:03 +01:00 (CET) Date last edited N/A

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