Global Variome shared LOVD

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

Phenotype #0000308032 Individual ID 00416265 Associated disease del 1p36 Diagnosis/Initial 1p36 deletion syndrome Diagnosis/Definite - Phenotype details severe iintellectual disability, hypotonia, feeding difficulty; seizures; ebstein anomaly; microphthalmia; hearing loss; high palate; microcephaly, brachycephaly, straight eyebrows, deeply set eyes, epicanthal folds, low-set ears, broad nasal root/bridge, long philtrum, pointed chin; atresia of exterenal acoustic foramen Inheritance Isolated (sporadic) 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 2022-08-26 10:31:45 +02:00 (CEST) Date last edited N/A

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