Conditions / Genetic
autosomal dominant intellectual developmental disorder 48
info · Genetic
An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22.
Signs and symptoms
- Intellectual disability
- Hypoplasia of the corpus callosum
- Hypotonia
- Microcephaly
- Long palpebral fissure
- Highly arched eyebrow
- Cerebellar dysplasia
- Anteverted nares
- Enlarged cisterna magna
- Feeding difficulties in infancy
Also known as: autosomal dominant mental retardation 48