| Name |
|---|
TNDM Genediabetes 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 Genemental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome |
GEFSP8 GeneGeneralized epilepsy with febrile seizures plus, type 8 |
GEFSP6 GeneGeneralized epilepsy with febrile seizures plus, type 6 |
GEFSP4 GeneEpilepsy, generalized, with febrile seizures plus, type 4 |
BFIS1 Genebenign familial infantile convulsions |
ECB2 Geneerythrocytosis, autosomal recessive benign 2 |
BRV2 GeneVertigo, benign recurrent, 2 |
TELAB1 Genetelangiectasia, benign 1 |
BFIS4 GeneConvulsions, benign familial infantile, 4 |
BFIC2 GeneBenign familial infantile convulsions-2 |
DKBI GeneDyskeratosis, hereditary benign intraepithelial |