Global Variome shared LOVD

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

Phenotype #0000231259 Individual ID 00305409 Associated disease FLHS Inheritance Isolated (sporadic) Diagnosis/Initial Floating-Harbor syndrome Age/Onset - Diagnosis/Definite FLHS Age/Examination 19y (19 years) Phenotype details birth weight 3620 kg, length 50.5 cm, OFC 37 cm; 19y-height 152 cm, OFC 53 cm; triangular face; long nose; low hanging; columella; short philtrum, thin upper lip, wide mouth, short neck; clinodactyly; no digestive abnormalities; hypernasal voice; speech delay, mild intellectual disability; pulmonary stenosis cryptorchidism; 16y-puberty Age/Diagnosis - Birth_Details - Phenotype/Onset - Height-Weight-OFC - Face/Philtrum - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2020-06-25 10:50:08 +02:00 (CEST) Date last edited N/A

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.