X-linked creatine deficiency syndrome

Pathology

creatine deficiency

Genetics

• X-linked
• associated with defects in SLC6A8

Clinical manifestations

• developmental delay
• hypotonia
• mental retardation
• seizures
• short stature
• midface hypoplasia

More general terms

• genetic syndrome (multisystem disorder)
• X-linked disease

Additional terms

• creatine

Database

• OMIM: https://mirror.omim.org/entry/300352