Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000272320 Individual ID 00377162 Associated disease MRD23 Phenotype details Functional abnormality of the bladder, Nocturia, Abnormal eyebrow morphology, Synophrys, Short attention span, Hyperactivity, Global developmental delay, Neurological speech impairment, Facial hypertrichosis, Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperactivity disorder, Neurodevelopmental delay, Stuttering, Seizure precipitated by febrile infection Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite 9y Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-07-15 16:41:57 +02:00 (CEST) Date last edited 2021-07-16 09:04:32 +02:00 (CEST)

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