Global Variome shared LOVD

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Phenotype #0000347748 Individual ID 00460022 Associated disease ID Diagnosis/Initial syndromic intellectual disability Diagnosis/Definite MRD7 Inheritance Isolated (sporadic) Phenotype details see paper; ..., intrauterine growth retardation; birth length -4SD, weight -2SD, OFC -4SD); 1m-feeding difficulties; gastro-oesophageal reflux; 18m-febrile seizures, myoclonic type; atonic seizures, 3y- tonic-clonic generalised seizures; episodes of vomiting, anorexia and dehydration; 14y- ID, severe microcephaly (length -2SD, weight -2SD, OFC -6SD), severe speech delay (few words), facial dysmorphism (thick lower lip, mild hypotelorism, hypoplastic ear lobes); evidence hand stereotypies 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 2025-01-17 16:10:03 +01:00 (CET) Date last edited N/A

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