Phenotype #0000155305

Individual ID 00207527
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. DD. Severe ID. Ear anomalies. Myoclonic and focal seizures. Transient apnea. Normal serum ALP. No retinal coloboma, congenital heart defects or hearing loss. No renal abnormalities. Normal brain MRI.
Inheritance Unknown
Age/Examination 09y (9 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 18:57:01 +01:00 (CET)
Date last edited N/A

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