Global Variome shared LOVD

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Phenotype #0000355641 Individual ID 00470745 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., global psychomotor developmental delay; failure to thrive; hypotonia; 21m-walk; speech 18m-first words, single words; intellectual disability; no autism spectrum disorder; behaviour anxiety, hyperactivity; 1y4m-1 febrile seizure; EEG normal; MRI retro-cerebellar cyst; triangular face, low set and ears with large lobes, low posterior hairline, low hanging columella, thin upper lip; no ophthalmological features; no skeletal abnormalities; patent ductus arteriosus; normal kidney; no genital anomalies; 5th finger ungueal dysplasia Age/Examination 6y 9m 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 2025-12-08 15:51:34 +01:00 (CET) Date last edited N/A

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