Global Variome shared LOVD

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Phenotype #0000297025 Individual ID 00404433 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details birth 30w, dizygotic twin, neonatal asphyxiabirth 30w, dizygotic twin, neonatal asphyxia, weight 1.325 kg (0.56 SD); 18y height 141.5 cm (-3.65 SD), weight 45.5 kg (-1.77 SD), OFC 50 cm (-3.98 SD); Spastic quadriplegia, absence-like episodes (no formal diagnosis of epilepsy); Developmetal delay, severe intellectual disability, very limited speech; Brachycephaly, deep set eyes, periorbital fullness, small up turned nose with broad tip, low set ears, prominent philtrum, down turned corners of the mouth, high narrow palate, curly hair; Several periods of tube feeding during infancy and childhood; Dry skin; no urogenital anomalies; Lumbal lordosis, small hands and feet; no hearing loss; Moderate myopia, central vision impairment; Recurrent respiratory infections during childhood, once episode of anemia (with single transusion) during infancy; automutilating behavior, screaming, teeth grinding Inheritance Isolated (sporadic) Age/Examination 18y (18 years) 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 2022-03-02 10:20:20 +01:00 (CET) Date last edited N/A

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