Phenotype #0000231268

Individual ID 00305418
Associated disease FLHS
Inheritance Isolated (sporadic)
Diagnosis/Initial Floating-Harbor syndrome
Age/Onset -
Diagnosis/Definite FLHS
Age/Examination 5y (5 years)
Phenotype details see paper; ..., short stature; delayed bone age; triangular face; low-hanging columella; short philtrum; thin upper vermilion border; no wide mouth; deep-set eyes; long eyelashes; low set ears; broad thumbs; brachydactyly; clinodactyly 5th finger; small teeth/widely spaced teeth; no high-pitched voice; expressive language delay; mild/moderate intellectual disability; no congenital heart defects; gastrointestinal motility issues; 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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