Global Variome shared LOVD

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

Phenotype #0000272469 Individual ID 00377318 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details cleft palate; tetralogy of fallot; short palpebral fissures, prominent nasal bridge, pointed nasal tip, thin upper lip, retrognathia; normal limbs; moderate/severe intellectual disability; not walking; hypotonia (lower limb more affected), conductive hearing loss, fair skin, astigmatism Inheritance Unknown Age/Examination 5y6m (5 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-07-22 10:42:59 +02:00 (CEST) Date last edited N/A

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