Global Variome shared LOVD

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

Phenotype #0000319143 Individual ID 00428231 Associated disease ? Diagnosis/Initial fetal akinesia Diagnosis/Definite - Phenotype details reduced fetal movements, intrauterine growth restriction, human tail, hypertrichosis; contractures elbows, wrists, fingers, hips, knees; micrognathia and retrognathia, dysplastic low-set ears, thin upper lip, sacral human tail, cleft palate, camptodactyly; muscular hypertonia, wide cisterna magna, pathological oculomotor function and otoacoustic emissions; respiratory insufficiency, non-invasive ventilation, laryngomalacia, retinal coloboma, myocardial hypertrophy, myocardial infarction, thymic hypoplasia, hyperglycaemia, insulin resistance, ichthyosis, cryptorchidism Inheritance Familial, autosomal recessive Age/Examination 2m 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 2022-12-24 16:09:43 +01:00 (CET) Date last edited N/A

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