Global Variome shared LOVD

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Phenotype #0000204033 Individual ID 00266258 Associated disease MRX;IDX Phenotype details intellectual disability, developmental delay, speech dealy/speech disturbances, short stature, mega cisterna magna, microcephaly,brachycephaly, long narrow face, prominent nasal bridge, large ears, cleft lip/cleft palate, dental abnormalities, micrognathia, facial ticks and grimacing, hyperextensible joints, cryptorchidism, urinary incontinence, hyperactive/friendly/affable, hyperactive/aggresive/shy Diagnosis/Initial mental retardation Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2019-10-19 03:35:27 +02:00 (CEST) Date last edited 2019-10-19 03:40:40 +02:00 (CEST)

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