Name

CLPTM1 Gene

cleft lip and palate associated transmembrane protein 1

EEC2 Gene

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 2

EEC1 Gene

ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome 1

AOCH Gene

Acromegaloid features, overgrowth, cleft palate, and hernia

NHS Gene

Nance-Horan syndrome (congenital cataracts and dental anomalies)

This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]

AMBN Gene

ameloblastin (enamel matrix protein)

This gene encodes the nonamelogenin enamel matrix protein ameloblastin. The encoded protein may be important in enamel matrix formation and mineralization. This gene is located in the calcium-binding phosphoprotein gene cluster on chromosome 4. Mutations in this gene may be associated with dentinogenesis imperfect and autosomal dominant amylogenesis imperfect. [provided by RefSeq, Aug 2011]

ANOP1 Gene

anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities)

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

OFC12 Gene

Orofacial cleft 12

OFC13 Gene

Orofacial cleft 13

OFC14 Gene

Orofacial cleft 14

OFC9 Gene

Orofacial cleft 9

OFCC1 Gene

orofacial cleft 1 candidate 1

OFC2 Gene

orofacial cleft 2

OFC3 Gene

orofacial cleft 3

OFC1 Gene

orofacial cleft 1

OFC4 Gene

Orofacial cleft 4