Phenotype #0000331100

Individual ID 00441675
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., microcephaly; global developmental delay; 16m-sit; 2y2m-walk; language severely delayed; severe intellectual disability; generalised tonic clonic seizures; peripheral neuropathy; ataxia; imaging no anomalies detected; clinodactyly, upslanting palpebral fissures, thoracic kyphosis, wide spaced teeth; tone reduced; power reduced; sensation reduced; unilateral intention tremor; reflexes reduced;
Inheritance Isolated (sporadic)
Age/Examination 22y (22 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 2023-11-09 12:18:41 +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.