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