Phenotype #0000337114

Individual ID 00447922
Associated disease CSS
Diagnosis/Initial Coffin-Siris Syndrome
Diagnosis/Definite CSS6
Phenotype details see paper; ..., birth 41w, weight 2.8 kg (10th%–25th%),; no congenital heart disease; hypotonia; no seizures; MRI brain normal; no autism; 33m-walk; 6y-first words; mild hyperopia, strabismus; no cleft lip/palate; coxa valga significantly delayed bone age (3-6m at 2y7m); genitourinary reflux; short stature; 5th digit anomalies;
Inheritance Unknown
Age/Examination 6y6m (6 years, 6 months)
Age/Diagnosis 2y3m
Age/Onset -
Phenotype/Onset -
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 2024-02-01 16:08:19 +01:00 (CET)
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.