Conditions / Genetic
autosomal recessive intellectual developmental disorder 35
info · Genetic
An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-Mb region on chromosome 17q21.31-q22 between SNPs rs4792947 and rs11079258.
Signs and symptoms
- Decreased body weight
- Long philtrum
- Generalized hypotonia
- Coarse facial features
- Microtia
- Hypertelorism
- Broad forehead
- Thin upper lip vermilion
- Downturned corners of mouth
- Clinodactyly