epilepsy-telangiectasia syndrome
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
epilepsy telangiectasia
related
intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency
related
mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency
related