Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000161611 Individual ID 00213134 Associated disease MCAHS1;GPIBD3 Phenotype details Severe ID (no social interaction or speech), severe hypotonia, epilepsy/focal seizures. Thin corpus callossum, PEG feeding. Normal serum alkaline phosphatase levels. Appearance: Bitemporal narrowing, broad nasal bridge, large ears, thin upper-vermillion and a smooth, long philtrum. Scoliosis. Dry skin, peeling on feet. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2019-01-11 00:45:20 +01:00 (CET) Date last edited N/A

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