Global Variome shared LOVD

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Phenotype #0000155304 Individual ID 00207526 Associated disease NEDHCAS Diagnosis/Initial - Diagnosis/Definite - Phenotype details Ichthyosiform dermatosis at birth. Dysmorphic facial features (hypertelorism, brachycephaly, epicanthal folds, flat broad nasal root, full lips, widely spaced teeth, overfolded helices, thickened palms and soles. Myoclonic jerks evoked by sudden unexpected acoustic or tactile stimuli. Focal seizures. DD. Severe ID. Ear anomalies. Transient apnea. Normal serum ALP. No retinal coloboma, congenital heart defects or hearing loss. No renal abnormalities. Normal brain MRI. Inheritance Familial, autosomal recessive Age/Examination 02y (2 years) Age/Onset - Phenotype/Onset - Protein - Owner name Philippe Campeau Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Philippe Campeau Date created 2018-11-23 18:51:13 +01:00 (CET) Date last edited N/A

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