Phenotype #0000231254

Individual ID	00305404
Associated disease	FLHS
Inheritance	Isolated (sporadic)
Diagnosis/Initial	Floating-Harbor syndrome
Age/Onset	-
Diagnosis/Definite	FLHS
Age/Examination	7y6m (7 years, 6 months)
Phenotype details	birth weight 2960 kg, length 48 cm, OFC 37 cm; 7y6m -weight 20 kg, height 112 cm, OFC 52 cm; triangular face; long nose; low hanging; columella; short philtrum, thin upper lip, wide mouth, short neck; clinodactyly, brachydactyly, short first MC; no digestive abnormalities; delayed bone age; hypernasal voice; mild developmental delay; inguinal hernia; no 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