Global Variome shared LOVD

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

Phenotype #0000350758 Individual ID 00465222 Associated disease ? Diagnosis/Initial fetal growth retardation, severe microcephaly, ponto-cerebellar hypoplasia Diagnosis/Definite - Phenotype details see paper; ..., 22wg-fetal growth retardation, severe microcephaly (−6ZS), ponto-cerebellar hypoplasia; birth 39wg, weight lower normal range (1860 g), 30 min-deceased; hypertrichosis, facial dysmorphism (low-set ears, hypertelorism, macrostomia, retromicrognathia; multiple joint contractures, restricted limb movements, lower limbs remained permanently in hyperextension; no fetal autopsy Inheritance Familial, autosomal recessive Age/Examination 00y00m01d (1 day) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-04-17 19:36:12 +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.