Global Variome shared LOVD

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

Phenotype #0000296521 Individual ID 00403841 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details polyhydramnions, birth 25w; congenital anencephaly (HP:0002323); Aplasia/hypoplasia of the cerebellum (HP:0007360); Ankle contracture (HP:0006466); Abnormal heart morphology (HP:0001627); Polyhydramnios (HP:0001561) Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-02-24 15:46:26 +01:00 (CET) Date last edited 2022-02-24 15:53:01 +01:00 (CET)

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