Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000247090 Individual ID 00328886 Associated disease RTT Inheritance Unknown Diagnosis/Initial 3 month Age/Examination - Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details (+) Microcephaly,(+) Behavioral abnormality,(+) Muscular hypotonia,(+) Global developmental delay,(+) Motor delay,(+) Pulmonic stenosis,(+) Rigidity,(+) Delayed gross motor development,(+) Myotonia,(+) Abnormality of the musculature,(+) Muscle stiffness,(+) Abnormal muscle tone,(+) Aplasia/Hypoplasia of the cerebrum,(+) Muscular hypotonia of the trunk,(+) Abnormal central motor function,(+) Abnormal muscle physiology,(+) Abnormal social behavior,(+) Neurodevelopmental delay,(+) Abnormal pulmonary valve physiology,(+) Decreased head circumference Protein - Owner name Andreas Laner Database submission license Creative Commons Attribution 4.0 International Created by Andreas Laner Date created 2021-02-02 11:43:50 +01:00 (CET) Date last edited 2021-02-02 11:56:51 +01:00 (CET)

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.