Global Variome shared LOVD

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Phenotype #0000024990 Individual ID 00028964 Associated disease MCAHS2;GPIBD4 Phenotype details He had febrile seizures at 8.5 months. He had development delay. Clinical examination showed a high anterior hairline, mildly upslanted palpebral fissures, a thin vermillion, a long philtrum, alveolar ridge overgrowth, absence of teeth and deepened plantar creases. He presented several types of seizures. Atrial septal defect type 2 was seen. Elevated alkaline phosphatase level was noted. Diagnosis/Initial - Inheritance Familial, X-linked 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 2015-01-06 23:07:26 +01:00 (CET) Date last edited 2015-01-06 23:21:44 +01:00 (CET)

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