Global Variome shared LOVD

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Phenotype #0000155176 Individual ID 00207405 Associated disease HPMRS4;GPIBD10 Phenotype details Multiple congenital anomalies (broad nasal bridge, tented upper lip vermilion, cleft palate, low set ears, micrognathia, retrognathia, brachytelephalangy, left sided cryptorchidism, wide feet, and broad toes). Progressive thoracic scoliosis. Hypotonia. Recurrent generalized seizures with dysrhythmic electroencephalographic paroxysmal changes. Thin corpus callosum. Severe psychomotor developmental delay, autistic behavior, and bruxism. Vision and hearing are normal, but cannot control egestion. Elevated ALP levels. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 01y (1 year) Age/Diagnosis >06y 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 2018-11-20 22:20:14 +01:00 (CET) Date last edited N/A

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