Phenotype #0000231256

Individual ID 00305406
Associated disease FLHS
Inheritance Isolated (sporadic)
Diagnosis/Initial Floating-Harbor syndrome
Age/Onset -
Diagnosis/Definite FLHS
Age/Examination 32y (32 years)
Phenotype details birth weight kg, length 2000 cm, OFC cm; 32y-weight 55 kg, height 136 cm, OFC 52 cm; triangular face; long nose; low hanging; columella; short philtrum, thin upper lip, wide mouth, short neck; clinodactyly; no digestive abnormalities; delayed bone age; hypernasal voice; speech delay; 10y-premature 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

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.