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 InternationalCreative Commons License
Created by Philippe Campeau
Date created 2018-11-23 18:51:13 +01:00 (CET)
Date last edited N/A

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