Phenotype #0000069484

Individual ID	00090111
Associated disease	PN
Phenotype details	low Birth weight; cutaneous changes since age 6m then evolved in poikiloderma; neutropenia since age 41d; pachyonychia; hyperkeratosis; dysmorphic features (small nose, depressed nasal bridge, mild micrognathia, prominent forehead); sparse hair and eyebrows; failure to thrive and frequent regurgitations in early infancy. Bone marrow studies showed decreased cellularity and mild abnormal differentiation of myeloid and erythroid precursors.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Elisa Adele Colombo
Database submission license	No license selected
Created by	Elisa Adele Colombo
Date created	2016-12-05 17:05:43 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD