Phenotype #0000269268

Individual ID 00374059
Associated disease CHD
Inheritance Isolated (sporadic)
Diagnosis/Initial congenital heart disease
Age/Examination 07y01m (7 years, 1 month)
Diagnosis/Definite -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Phenotype details birth 33w, weight 1770 grams (SD -0.83); 2-2.5y-walk; length 121 cm (SD -0.08), weight 44.3 kg (SD 3.77), OFC 50.7 cm (SD -1.81); atrioventricular septal defect; prominent forehead, prominent nasal bridge, disorganised left eyebrow with both medial and lateral flare, anteverted nares, full lips, wide-spaced teeth; global developmental delay; motor delay; specific learning disability; attention deficit hyperactivity disorder; microcephaly, Arnold-Chiari type I malformation, microcephaly; nystagmus
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 2021-05-22 21:51:18 +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.