Phenotype #0000326301

Individual ID 00436117
Associated disease ?
Diagnosis/Initial intellectual disability, digital anomalies
Diagnosis/Definite -
Phenotype details see paper; ..., fetal ultrasound unremarkable, birth at term, weight 2,760g, length 50cm at 6 weeks (-2.1 SD); weight 22kg (8th centile), length 130.8cm (46th centile); no spine anomaly; no metaphyseal anomaly; no epiphyseal anomaly; syndactyly; brachydactyly/clinodactyly/camptodactyly; cardiac anomaly; no hydronephrosis; global developmental delay, autism
Inheritance Familial, autosomal recessive
Age/Examination 8y9m (8 years, 9 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2023-08-10 22:14:44 +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.