Name

TNDM Gene

diabetes mellitus, transient neonatal

Transient neonatal diabetes mellitus is associated with overexpression of a region containing the PLAGL1 and HYMAI genes on chromosome 6q24. These genes are normally imprinted and expressed only from the paternal allele. Imprinting is regulated by differential methylation of a CpG island in this region. [provided by RefSeq, May 2015]

MEHMO Gene

mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome

GEFSP8 Gene

Generalized epilepsy with febrile seizures plus, type 8

GEFSP6 Gene

Generalized epilepsy with febrile seizures plus, type 6

GEFSP4 Gene

Epilepsy, generalized, with febrile seizures plus, type 4

BFIS1 Gene

benign familial infantile convulsions

ECB2 Gene

erythrocytosis, autosomal recessive benign 2

BRV2 Gene

Vertigo, benign recurrent, 2

TELAB1 Gene

telangiectasia, benign 1

BFIS4 Gene

Convulsions, benign familial infantile, 4

BFIC2 Gene

Benign familial infantile convulsions-2

DKBI Gene

Dyskeratosis, hereditary benign intraepithelial