Global Variome shared LOVD

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Phenotype #0000239765 Individual ID 00316020 Associated disease NDD Diagnosis/Initial - Diagnosis/Definite - Phenotype details birth weight 3630 gr (0.7 SD), OFC 32.3 cm (-2.1 SD); 10y-OFC 51.5 cm (-2.1 SD); severe intellectual disability; microcephaly detected during pregnancy; hypotonia at birth; first words-2y, walk-3.5y.; anxiety; attention deficit hyperactivity disorder-like; spasticity lower limbs, with increased deep tendon reflexes and extensor reflex; no ataxia, no dysmetria; distal neuroaxonal impairment; MRI brain corpus callosum hypoplasia, bilateral Perisylvian polymicrogyria; 5y-hypertrophic cardiomyopathy; arched eyebrows, thin upper lip, long philtrum, low-set thumbs, 2-3 toe syndactyly; conjunctival hyperemia, ocular movements: slow saccades, drooling, orofacial dyspraxia Inheritance Familial, autosomal recessive Age/Examination 10y (10 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 2020-11-01 12:39:14 +01:00 (CET) Date last edited 2020-11-01 13:05:50 +01:00 (CET)

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