Results for "lissencephaly 4 (with microcephaly)": 7 genes

Name

JAWAD Gene

Microcephaly with digital anomalies

MEHMO Gene

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

MMRFCGU Gene

Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations

CLAM Gene

cerebellar atrophy with progressive microcephaly

MSD Gene

microcephaly with spastic diplegia (Paine syndrome)

ASPM Gene

asp (abnormal spindle) homolog, microcephaly associated (Drosophila)

This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]

GUST Gene

Gustavson mental retardation syndrome (with microcephaly, optic