Phenotype #0000044575

Individual ID	00057925
Associated disease	PN
Phenotype details	poikiloderma, neutropenia, palmoplantar and ear helixes hyperkeratosis, dry scalp hair, toe nails subungueal hyperkeratosis, delayed dental eruption, caries tendency, saddle short nose, flat broad face, caput quadratum, retrognathia, myelodysplasia, splenomegalia, recurrent pulmonary infections and meningitis, low stature (<3rd centile), hypogonadism. An affected elder sister (not tested) died during infancy
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	-
Age/Examination	-
Age/Diagnosis	17y
Age/Onset	00y05m
Phenotype/Onset	-
Protein	-
Owner name	Ludovica Volpi
Database submission license	No license selected
Created by	Ludovica Volpi
Date created	2011-09-14 17:00:46 +02:00 (CEST)
Date last edited	2016-02-23 17:30:52 +01:00 (CET)

Global Variome shared LOVD