Global Variome shared LOVD

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Phenotype #0000242354 Individual ID 00320341 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Isolated (sporadic) Phenotype details pregnancy Tegretol; neonatal geeding difficulties; birth birth 36+6w, weight 0SD; length -3.5SD, BMI 21; severe developmental delay/intellectual disability; 7y-walk with assistance; no speech; 10y-epilepsy; 9m-loss of babbling; increased reflexes, tremor of the upper extremities, wide-based gait; autistic behaviour (stereotypies); MRI brain abnormal myelination; broad forehead; no widely spaced eyes; flat nasal bridge; anteverted nares, short nose; coarseness, protruding tongue; no hypertrichosis; thick lips; pink and full cheeks; almond-shaped eyes; thick earlobes; flat feet; hyperlordosis; no hip dislocation; genu valgum; club feet; skin large hyperpigmented region on the abdomen; no umbilical hernia; normal eyes; no hearing loss; chronic constipation; no recurrent infections Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-11-27 13:30:34 +01:00 (CET) Date last edited N/A

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