Phenotype #0000155306

Individual ID 00207528
Associated disease NEDHCAS
Diagnosis/Initial -
Diagnosis/Definite -
Phenotype details During pregnancy: foetal ultrasound shows congenital hydronephrosis. 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. Seizures: myoclonic, focal, absence, atonic. Transient apnea. Normal serum ALP. No retinal coloboma, congenital heart defects or hearing loss.
Inheritance Unknown
Age/Examination 13y (13 years)
Age/Onset -
Phenotype/Onset 2d
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 19:00:27 +01:00 (CET)
Date last edited N/A

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