It is caused by homozygous mutation in the G6PC3 gene on chromosome 17.
Patients present with congenital neutropenia, cardiac abnormalities, inner ear deafness, neonatal sepsis and a prominent superficial venous pattern.[3]
Glycogen storage disease type 1b
Autosomal recessive(AR) transmission.
It is caused by homozygous or compound heterozygous mutation in the G6PT1 gene which encodes glucose-6-phosphate translocase, on chromosome 11.
Patients present with short stature, hepatomegaly, hypertension, eruptive xanthoma and hyperlipidemia.[4]
Cohen Syndrome
Autosomal recessive(AR) transmission.
It is caused by homozygous or compound heterozygous mutations in the COH1 gene on chromosome 8.
Patients present with nonprogressive psychomotor retardation, motor clumsiness, microcephaly, high-arched eyelids, short philtrum, thick hair, low hairline, hypotonia, hyperextensibility of the joints, retinochoroidal dystrophy, myopia, and granulocytopenia.[5]
Barth Syndrome
X-linked recessive(XLR) transmission.
It is caused by mutation in the tafazzin gene (TAZ) on chromosome X.
Patients present with dilated cardiomyopathy, a predominantly proximal skeletal myopathy, growth retardation, organic aciduria, and neutropenia.[6]
Clericuzio syndrome (poikiloderma with neutropenia)
Autosomal recessive(AR) transmission.
It is caused by homozygous or compound heterozygous mutation in the USB1 gene on chromosome 16.
Patients usually present with a papular erythematous rash on the limbs during the first year of life which gradually spreads centripetally. Neutropenia may also be present.[7]
VPS45 deficiency (SCN5)
Autosomal recessive(AR) transmission.
It is caused by homozygous mutation in the VPS45 gene on chromosome 1.
Patients present in infancy with poor weight gain, hepatosplenomegaly, and severe infections or deep-seated abscesses. Other features include hypergammaglobulinemia, nephromegaly due to extramedullary hematopoiesis, and bone marrow fibrosis.[8]