Global Variome shared LOVD

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

Phenotype #0000015400 Individual ID 00017036 Associated disease NPHP1 Phenotype details neurological alterations, including speech delay, intellectual disability, and/or hydrocephalus supported by cerebral MRI in combination with ophthalmologic defects, strabismus and retinal degeneration, intellectual disability, retinitis, age ESRD 4y Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination ? Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Marianne Vos (LOVD-team) Database submission license No license selected Created by Marianne Vos (LOVD-team) Date created 2014-06-14 12:29:13 +02:00 (CEST) Date last edited 2016-06-19 17:44:45 +02:00 (CEST)

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