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

Global Variome shared LOVD