Phenotype #0000231266

Individual ID 00305416
Associated disease FLHS
Inheritance Isolated (sporadic)
Diagnosis/Initial Floating-Harbor syndrome
Age/Onset -
Diagnosis/Definite FLHS
Age/Examination 2y (2 years)
Phenotype details see paper; ..., short stature; delayed bone age; triangular face; no low-hanging columella; no short philtrum; no thin upper vermilion border; no wide mouth; no deep-set eyes; long eyelashes; no low set ears; no broad thumbs; brachydactyly; clinodactyly 5th finger; no small teeth/widely spaced teeth; no high-pitched voice; expressive language delay; mild/moderate intellectual disability; congenital heart defects; no gastrointestinal motility issues; no behavioral issues
Age/Diagnosis -
Birth_Details -
Phenotype/Onset -
Height-Weight-OFC -
Face/Philtrum -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-06-25 13:07:33 +02:00 (CEST)
Date last edited N/A

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