Global Variome shared LOVD

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Phenotype #0000321936 Individual ID 00431336 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., OFC -1.5SD; short stature; moderate developmental delay; 6m-sit; 12m-walk, instability in childhood; first words delayed, few sentences; school specialized structure; mild intellectual disability; dysmorphism; no hypotonia; no spasticity/hypertonia; no movement disorder; normal behavior; no seizures; abdominal ultrasound ectopic right kidney; coxa vara, scoliosis; right cryptorchidism, mild regressive gynecomastia; no ophthalmic anomalies Inheritance Familial, autosomal recessive Age/Examination 14y4m (14 years, 4 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-02-09 10:08:23 +01:00 (CET) Date last edited N/A

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