Global Variome shared LOVD

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Phenotype #0000155172 Individual ID 00207401 Associated disease HPMRS4;GPIBD10 Phenotype details Dysmorphic features (tented thin upper lip, broad nasal bridge, hypertelorism, large fleshy ear lobes, short upturned nose, upslanted palpebral fissures, long philtrum, brachycephaly, large anterior fontanel size, gum hypertrophy), Neurological abnormalities (global DD, Hypotonia), Brain abnormalities (thin/dysgenetic corpus callosum), Dysphagia, CVS Anomalies (patent ductus arteriosus (PDA), concentric ventricle hypertrophy), Extremity abnormalities (pes equinovarus, thin/sparse hair), Others (umbilical hernia, pectus excavatum), ALP levels (756-821 U/L) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 00y01m (1 month) Age/Diagnosis - Age/Onset <00y01m Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2018-11-20 21:30:28 +01:00 (CET) Date last edited N/A

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