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