Global Variome shared LOVD

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

Phenotype #0000258530 Individual ID 00363164 Associated disease MARTS1 Phenotype details see paper; ..., no intrauterine growth retardation, postnatal growth retardation; birth OF 34cm; postnatal microcephaly; no seizures; truncal hypotonia; limb spasticity and spastic cerebral palsy; 3y-speech; 3y-walking; congenital cataracts?, microphthalmia; brachycephaly; no distinct dysmorphic features, no maxillary retrusion or pouting lips; hirsutism; female no genital abnormalities/male micropenis, cryptorchidism; large ears; CT brain normal Diagnosis/Initial Martsolf syndrome Inheritance Familial, autosomal recessive Diagnosis/Definite Martsolf syndrome 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 2021-04-24 18:22:47 +02:00 (CEST) Date last edited N/A

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