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

Global Variome shared LOVD