Phenotype #0000236673

Individual ID 00311426
Associated disease NDD
Diagnosis/Initial developmental delay
Diagnosis/Definite -
Phenotype details feeding difficulties; mild developmental delay/intellectual disability; behavioral problems; bicuspid aortic valve, ventricular septal defect, patent foramen ovale; normal stature (SD 0.2), normal weight (SD 0.82), OFC normal (SD 1.16); craniofacial dysmorphisms; hypermetropia, precocious puberty, hypermobility
Inheritance Isolated (sporadic)
Age/Examination 13y (13 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2020-09-25 11:13:06 +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.