Global Variome shared LOVD

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

Phenotype #0000016889 Individual ID 00018536 Associated disease SBBYSS Inheritance Unknown Diagnosis/Initial - Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details Small for gestational age, patent foramen ovale, gastrectasia, kidney lithiasis. developmental delay, severe hypotonia, feeding difficulties, urinary infections, and primary hypothyroidism. length <3rd centile, weight 3rd centile, and OFC 5th centile. Immobile face, a broad forehead with slight biparietal narrowing, sparse eyebrows and eyelashes, blepharophimosis, telecanthus, a broad and flat nasal bridge, a short nose with a bulbous nasal tip, a long philtrum, thin lip vermilion, and micrognathia. Ears posteriorly angulated, large, and apparently low-set. Broad and short neck. High palate. Fingers tapering with clinodactyly of the 5th fingers. The length of the middle finger was at the 25th centile while both thumbs appeared long. Bilateral cryptorchidism. Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2013-02-24 16:25:31 +01:00 (CET) Date last edited 2013-02-24 16:28:47 +01:00 (CET)

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