Global Variome shared LOVD

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Phenotype #0000155166 Individual ID 00207395 Associated disease HPMRS4;GPIBD10 Phenotype details Severe psychomotor delay, ID, delay speech, behaviour difficulties, Facial dysmorphism, Muscular hypotonia, skeletal abnormalities (fractures), Opthalmological abnormalities (megalocornea), Heart abnormalities (repaired arterial septal defect (ASD)), Other findings (hyperpigmented macules of the LT upper thigh, inguinal hernia, abnormal teeth), High ALP levels (1340 U/L) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 02y (2 years) 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 2018-11-20 20:35:37 +01:00 (CET) Date last edited N/A

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