Global Variome shared LOVD

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Phenotype #0000350408 Individual ID 00464385 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Isolated (sporadic) Phenotype details see paper; ..., (growth parameters); food sensory issues; impulsive inpatient, short attention span, cannot focus, some self-injuries; autism spectrum disorder (HP:0000729), short attention span (HP:0000736), self-injurious behavior (HP:0100716); delayed speech (HP:0000750), 5y-first, around 100 words; three seizure episodes (possibly petit mal); MRI brin stable left periventricular subependymal nodule, left parietal subcortical/cortical lesion, likely subcortical hamartomatous lesion as seen in tuberous sclerosis; no facial dysmorphism; incontinentia pigmenti, broad-based gait (HP:0002136); tuberous sclerosis complex (no TSC1/TSC2 variants), constipation (HP:0002019), Age/Examination 7.5y 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 2025-03-08 17:44:25 +01:00 (CET) Date last edited N/A

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