Name

TAM Gene

Myeloproliferative syndrome, transient (transient abnormal

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]

AOCH Gene

Acromegaloid features, overgrowth, cleft palate, and hernia

CLPTM1 Gene

cleft lip and palate associated transmembrane protein 1

Predicted to enable GABA receptor binding activity. Predicted to be involved in regulation of T cell differentiation in thymus. Located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

EEC2 Gene

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2

EEC1 Gene

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1