Global Variome shared LOVD

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

Phenotype #0000324340 Individual ID 00433962 Associated disease microcephaly Diagnosis/Initial microcephaly Diagnosis/Definite MCPH5 Phenotype details microcephaly, OFC SD-9 to -10; unable to speak clearly, poor self care ability, no history of seizures, severe intellectual disability, normal motor skills, such as sitting, standing, and walking, normal height, normal hearing and vision Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-03-16 11:51:24 +01:00 (CET) Date last edited 2023-03-16 12:59:56 +01:00 (CET)

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