Global Variome shared LOVD

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

Phenotype #0000016870 Individual ID 00018517 Associated disease SBBYSS Inheritance Unknown Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details Mask-like facial appearance; Birth weight 0.4 pctile; Hypotonia; Learning Disability; Feeding problems; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; Cleft palate; Thyroid abnormal; Heart Defect; Cryptorchidism; Hypospadias; Height 25 pctile; Weight 25 pctile; OFC 2 pctile; Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2012-01-22 18:29:19 +01:00 (CET) Date last edited 2012-02-12 12:58:33 +01:00 (CET)

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