Phenotype #0000325813

Individual ID 00435629
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., motor delay, 5y-walk; no speech; intellectual disability; no seizures; mild optic atrophy; hypotonia; MRI brain abnormal lateral ventricles (contour), abnormal white matter signal, Chiari malformation type 1 (s/p repair); coronal synostosis, mildly tapered fingers, 5th finger clinodactyly; prominent maxilla/upper lip; no micrognathia; long ears
Inheritance Isolated (sporadic)
Age/Examination 3y (3 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 2023-08-06 22:51:48 +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.