Global Variome shared LOVD

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Phenotype #0000296517 Individual ID 00403837 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details normal vaginal delivery, birth 38+3w, length 47 cmcm, weight 3070g; OFC31 cm; weight 38.2 kg (39 percentile), height 138 cm (50 percentile), OFC 53 cm (50 percentile); global developmental delay; 6m-roll; 22m-sit; 3y-walk; 3y-speech, three-word sentences; moderate intellectual disability; IQ50 (SON-R); sometimes autoagressive behaviour (bites his hands), enuresis nocturna; 1-2y-pronounced muscle hypotonia noticeable; 6y-muscle normal; last presentation, no marked muscle hypotonia; no epilepsy; EEG normal; normal sleep; MRI brain 2w-unremarkable; normal routine blood tests; strabism; no hearing loss; dysmorphism; mild hypertelorism, blue sclera, line, sparse lateral eyebrow; full lips; no scoliosis; flat-footed; PDA, PFO, multiple aortopulmonary collateral arteries (MAPCAs), Sagittal craniosynostosis, There has been no disease progression in recent years 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 2022-02-24 15:46:26 +01:00 (CET) Date last edited N/A

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