epilepsy-telangiectasia syndrome
epilepsy telangiectasia
related
intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency
related
mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency
related
Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015650
epilepsy syndrome
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a