Global Variome shared LOVD

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Phenotype #0000356060 Individual ID 00471226 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite MRXSBA Phenotype details see paper; ..., no short stature; no macrocephaly; developmental delay; no speech, 4y-signing about 100 words; motor delay; Smile at 6 months, eye contact at 3 months; 8-9m-sit; 23m-walk; self-abusive, aggressive towards other children; no seizures; EEG normal; no nystagmus; no hypotonia; no spasticity; no rigor; no ataxia; brady-/hypokinesia, poor facial expression; dystonia, raises right arm and abducts shoulder; mild pulmonary valve stenosis; constipation; normal vision; moderate-severe bilateral sensorineural deafness, attends school the deaf; pectus carinatum, clinodactyly, pes planus; dysmorphic facial features; broad nasal bridge; small ear, overfolded helices, posteriorly roated ears, anteverted lobes; bilateral epicanthal folds, deep infraorbital creases, poor facial expression, deep voice, pectus carinatum, hypertelorism, right lateral incisor fused with first bicuspid, clinodactyly, high palate, small mouth Inheritance Unknown Age/Examination 8y1m (8 years, 1 month) 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 2025-12-18 12:56:55 +01:00 (CET) Date last edited N/A

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