Global Variome shared LOVD

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

Phenotype #0000231255 Individual ID 00305405 Associated disease FLHS Inheritance Isolated (sporadic) Diagnosis/Initial Floating-Harbor syndrome Age/Onset - Diagnosis/Definite FLHS Age/Examination 10y (10 years) Phenotype details birth weight 2670 kg, length 48 cm, OFC 32 cm; 10y-weight 24 kg, height 124 cm, OFC 52.5 cm; triangular face; long nose; low hanging; columella; short philtrum, thin upper lip, wide mouth, short neck; no clinodactyly, cutaneous syndactyly (fingers 3–5); transient gluten intolerance; mild delayed bone age; hypernasal voice; speech delay, mild development delay, seizures; atrial septal defect; no puberty; familial Marfan syndrome, root aortic dilatation, ectopial lentis arachnodactyly 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

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