Phenotype #0000239733

Individual ID 00315988
Associated disease ?
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., failure to thrive; no globe defect; no coloboma; visual impairment; Strabismus; motor delay; speech delay; mild intellectual disability; no behavioral features; hypotonia; no cardiac defect; kidney anomaly; bilateral hearing loss, epicanthal folds; unilateral 2-3 toe syndactyly; upturned nose
Inheritance Isolated (sporadic)
Age/Examination 36y (36 years)
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 2020-11-01 10:06:29 +01:00 (CET)
Date last edited 2022-11-30 19:56:46 +01:00 (CET)

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.