Conditions / Genetic
MEHMO syndrome
info · Genetic
A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gen
A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22.
Signs and symptoms
- Microcephaly
- Global developmental delay
- Male hypogonadism
- Obesity
- Birth length less than 3rd percentile
- Small for gestational age
- Seizure
- Poor speech
- Strabismus
- Long philtrum
Also known as: MRXS20; MRXS25; X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome; mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; syndromic X-linked mental retardation 20