Global Variome shared LOVD

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

Phenotype #0000295572 Individual ID 00402812 Associated disease DEDDFA Diagnosis/Initial intellectual disability Diagnosis/Definite DEDDFA Phenotype details iris coloboma, neurodevelopmental delay , hypotonia, seizures, microcephaly, highly arched eyebrow, medial cleft lip and palate, bilateral cryptorchidism. Inheritance Isolated (sporadic) Age/Examination 02y06m (2 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset medial cleft lip and palate Owner name Miriam Erandi Reyna-Fabián Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Miriam Erandi Reyna-Fabián Date created 2022-02-10 23:15:44 +01:00 (CET) Date last edited 2022-02-16 11:07:55 +01:00 (CET)

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