Phenotype #0000327895

Individual ID 00437991
Associated disease WITKOS
Diagnosis/Initial -
Diagnosis/Definite WITKOS
Phenotype details no developmental delay; no intellectual disability; no speech delay; behavioral problems; no hypotonia; no feeding difficulties; head circumference not below −2SD, height below −2SD; MRI brain abnormal; epilepsy; skeletal abnormalities; no hearing loss; typical facial dysmorphic features; no ectodermal symptoms; possible narcolepsy, memory concerns, fatigue, muscle weakness, paresthesias, gait instability
Inheritance Unknown
Age/Examination 32y (32 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 2023-10-19 12:07:03 +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.