Phenotype #0000232885

Individual ID 00307061
Associated disease NDD
Diagnosis/Initial neurodegeneration
Diagnosis/Definite -
Phenotype details infantile form; delayed motor development; mild intellectual impairment; chronic progression; no regression; no acute respiratory failure; microcephaly (SD−2.2); no seizures; spastic paraplegia; visual disturbance; MRI pattern I; no lactate increase; abnormal variation in muscle fiber diameter
Inheritance Familial, autosomal recessive
Age/Examination 5m
Age/Diagnosis -
Age/Onset 2y
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 2020-07-28 19:38:55 +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.