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 InternationalCreative Commons License
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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