Global Variome shared LOVD

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

Phenotype #0000290115 Individual ID 00396960 Associated disease NEDMISBA;MCPH15 Phenotype details no premature death; OFC 47 cm (-6.9 SDS); global developmental delay; sit; walk; severely delayed speech; severe intellectual disability; aggressive behavior; appendicular spasticity; no axial hypotonia; no seizures; no dysphagia; no skeletal abnormalities; MRI moderate WM thinning with ventricular dilatation, mild simplified gyral pattern, mild corpus callosum hypoplasia, inferior vermian hypoplasia, no pontine hypoplasia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite NEDMISBA Age/Examination 27y (27 years) 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 2021-12-17 19:49:06 +01:00 (CET) Date last edited N/A

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