Phenotype #0000015309

Individual ID 00016943
Associated disease NLS1
Phenotype details delivered vaginally at term with thick meconium-stained liquor. Birth weight was 2.24 kg. The baby was evidently jaundiced with generalized colloidonlike ichthyosis. He was microcephalic (head circumferenceof 27.5 cm) with a sloping forehead, a broad nose, large ears, a short neck, spastic long fingers, and fixed contractures of the extremities. He succumbed to pneumonia and pseudomonas sepsis and died at 1 month of age.
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 00y ()
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Marianne Vos (LOVD-team)
Database submission license No license selected
Created by Marianne Vos (LOVD-team)
Date created 2014-06-08 15:43:43 +02:00 (CEST)
Date last edited 2016-06-19 12:11:28 +02:00 (CEST)

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