Phenotype #0000272297

Individual ID 00377134
Associated disease KABUK2
Phenotype details Abnormality of body height, Microcephaly, Behavioral abnormality, Global developmental delay, Growth delay, Intrauterine growth retardation, Short stature, Aplasia/Hypoplasia of the cerebrum, Abnormal nervous system physiology, Neurodevelopmental delay, Decreased head circumference
Diagnosis/Initial -
Inheritance Familial, X-linked dominant
Diagnosis/Definite 5y
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2021-07-06 10:37:45 +02:00 (CEST)
Date last edited 2021-07-07 21:25:55 +02:00 (CEST)

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.