Global Variome shared LOVD

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Phenotype #0000042700 Individual ID 00056044 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details MCAP/MMPH overlap patient; MCAP-like features, congenital megalencephaly (HP:0001355, 7.5m OFC +5.5), somatic asymmetry, vascular malformations, connective tissue dysplasia (skin laxity, joint hypermobility, thick doughy subcutaneous tissue), poorly-substantiated umbilical hemangioma; MRI-brain megalencephaly, mild ventriculomegaly (HP:0002119), polymicrogyria (HP:0002126), cerebellar tonsillar ectopia; hydrocephalus (HP:0000238), no skin capillary malformations, no distal limb anomalies (no polydactyly (-HP:0010442), no syndactyly (-HP:0001159)) Inheritance Isolated (sporadic) Age/Examination 00y11m (11 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - 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 11:23:38 +01:00 (CET) Date last edited N/A

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