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What is Mental Retardation X Linked 12 ( MRX12 ) (MRX35)
Mental Retardation X Linked 12 is a rare genetic disorder due to a mutation in THOC2
Synonyms
- X-linked intellectual disability, Gu type
- MRX35
- MRX12
Inheritance
This condition is X linked recessive inheritance
Etiology
This condition is caused by mutation in the THO complex, subunit 2 gene (THOC2)
Symptoms and Signs
- speech delay,
- Mental retardation
- short stature,
- elevated body mass index (BMI)
- truncal obesity pattern in older males
- hypotonia,
- tremor,
- gait disturbances,
- behavioral problems
- seizure disorders
- intellectual disability
- mild ventriculomegaly
- gliosis,
- inferior cerebellar vermis dysplasia,
- cervical cord compression
- microcephaly
- microorchidism and/or microphallus
- dysmorphic facial features
- Cerebellar hypoplasia
