Conditions / Genetic

Diamond-Blackfan anemia 7

info · Genetic

A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11.

Signs and symptoms

Triphalangeal thumb
Hearing impairment
Small hypothenar eminence
Osteoporosis
Ventricular septal defect
Recurrent infections
Osteopenia
Sprengel anomaly
Fetal distress
Patent ductus arteriosus

Also known as: DBA7; RPL11-related Diamond-Blackfan anemia