Phenotype #0000073496

Individual ID 00095103
Associated disease PVNH4
Phenotype details joint hypermobility (HP:0001382), Seizures (HP:0001250), periventricular nodular heterotopia, mitralic valve prolapse (HP:0001634), ventriculomegaly (HP:0002119), soft thin skin (HP:0000963), normal elasticity, normally healed scars, agenesis of corpus collosum (HP:0001338), cognitive impairment (HP:0100543)
Diagnosis/Initial -
Inheritance Familial, X-linked recessive
Diagnosis/Definite -
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-09-23 10:58:45 +02:00 (CEST)
Date last edited 2017-01-06 12:31:02 +01:00 (CET)

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