Phenotype #0000231258

Individual ID 00305408
Associated disease FLHS
Inheritance Isolated (sporadic)
Diagnosis/Initial Floating-Harbor syndrome
Age/Onset -
Diagnosis/Definite FLHS
Age/Examination 8y (8 years)
Phenotype details birth weight 3180 kg, length 47 cm, OFC 35 cm; 8y-weight 20.6 kg, height 118 cm, OFC 52.5 cm; triangular face; long nose; low hanging; columella; short philtrum, thin upper lip, wide mouth, short neck; clinodactyly; delayed bone age; hypernasal voice; speech delay; atrial septal defect; 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

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