Results for "Hypoplasia of the frontal lobes": 7 genes

Name

ENFL2 Gene

Epilepsy, nocturnal frontal lobe, type 2

PTLAH Gene

patella aplasia-hypoplasia

AMMECR1 Gene

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

AMMEC Gene

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis

FHASD Gene

Foveal hypoplasia and anterior segment dysgenesis

CHMRQ Gene

Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion

IHG1 Gene

iris hypoplasia with glaucoma 1