Global Variome shared LOVD

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Phenotype #0000241800 Individual ID 00318016 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRT72 Inheritance Familial, autosomal recessive Phenotype details see paper; ..., weight 32 kg (-4.9 SD), height 152 cm (-1.6 SD), OFC 51 cm (-3.1 SD); no congenital anomalies; severe intellectual disability (HP:0010864); speech delay; microcephaly; no hypotonia; no epilepsy; no spasticity; attention-deficit/hyperactivity disorder; no eye abnormalities; no nose abnormalities; normal mouth; large ears; no hearing loss; no vestibular deficit Age/Examination 16y (16 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 2020-11-05 17:52:36 +01:00 (CET) Date last edited 2021-10-28 08:33:00 +02:00 (CEST)

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