Global Variome shared LOVD

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Phenotype #0000321941 Individual ID 00431341 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., microcephaly; short stature; severe developmental delay; 1y-sit; 5y-walk; 1.5y-first words, 7.5y-no sentences; school special education; prepubertal; severe intellectual disability; dysmorphism; no hypotonia; spasticity, hypertonia; waddling gait; no seizures; MRI brain abnormal; abdominal ultrasound normal; scoliosis; hypoplastic genitalia; strabismus Inheritance Familial, autosomal recessive Age/Examination 7y6m (7 years, 6 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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