This is an extremely rare condition, characerized by severe mental retardation, microcephaly with elongated faces, seizure disorders, short stature, hypertelorism, optic atrophy, ptosis, absent ear lobes, and thin upper lips.
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
This is an extremely rare condition, characerized by severe mental retardation, microcephaly with elongated faces, seizure disorders, short stature, hypertelorism, optic atrophy, ptosis, absent ear lobes, and thin upper lips.