Global Variome shared LOVD

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Phenotype #0000280742 Individual ID 00386944 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRT72 Inheritance Familial, autosomal recessive Phenotype details see paper; ..., weight 50 kg (-0.1 SD), height 157 cm (-0.8 SD), OFC 48 cm (-4.2 SD); no congenital anomalies; severe intellectual disability (HP:0010864); speech delay; microcephaly; mild hypotonia; no epilepsy; no spasticity; attention-deficit/hyperactivity disorder, aggressive; no eye abnormalities; broad nasal base, over hanging nasal tip; normal mouth; normal ear shape; no hearing loss; no vestibular deficit Age/Examination 14y (14 years) 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 2021-10-28 08:37:25 +02:00 (CEST) Date last edited 2021-10-28 08:38:37 +02:00 (CEST)

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