Phenotype #0000257468

Individual ID 00362055
Associated disease ?
Diagnosis/Initial hypotonia, delayed gross motor skills
Diagnosis/Definite -
Phenotype details hypotonia, delayed gross motor skills; no short stature; deep-set eyes, thick eyebrows; gait ataxia; truncal ataxia; hypotonia; no dysarthria; no tremor (postural, intention); no seizures, EEG normal; no microcephaly; no nystagmus; no saccadic abnormalities; no jerky eye movements; 8-9m-sit; 16m-walk; first word after 2 years, 10 words by 2.5 years; normal speech; mainstream school; attentional challenges; MRI brain normal
Inheritance Isolated (sporadic)
Age/Examination 9y (9 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 2021-04-15 11:18:09 +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.