Global Variome shared LOVD

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Phenotype #0000167718 Individual ID 00219172 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRX-102 Inheritance Familial, X-linked recessive Phenotype details severe ID, dysplastic pulmonary valve, hypertonia, strabismus, thickened nuchal fold, absent nasal bone; mother had recurrent miscarriages of unknown gender; viable pregnancy terminated for ultrasound anomalies (thickened nuchal fold, absent nasal bone); severe intellectual disability (HP:0010864) Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-02-06 21:03:42 +01:00 (CET) Date last edited 2020-05-12 12:33:06 +02:00 (CEST)

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