Temtamy Syndrome

Description

Temtamy syndrome is a mental retardation/multiple congenital anomaly syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities, including abnormalities of the corpus callosum and thalamus (summary by Akizu et al., 2013).

Incidence and onset information

Not enough data available about incidence and published cases.
— Infantile onset

Temtamy Syndrome Common symptoms

Top most frequent phenotypes related to Temtamy Syndrome

  • Short 2nd toe
  • Lop ear
  • Hypoplasia of teeth
  • Aortic dilatation
  • Ectopia lentis
  • Aortic regurgitation
  • Chorioretinal coloboma
  • Genu varum
  • Abnormality of the palate
  • Aplasia/Hypoplasia of the corpus callosum
  • Short toe
  • Dental crowding
  • Convex nasal ridge
  • Thick lower lip vermilion
  • Highly arched eyebrow
View the complete list of symptoms

Genes related to Temtamy Syndrome

  • C12orf57

Temtamy Syndrome Recommended genes panels

Panel Name & Genes Tested specificity Genes covered
Non-Specific Intellectual Disability Panel

AP4B1, ZMYND11, TAF2, SOX11, SETD5, PGAP1, METTL23, WASHC4, FMN2, FBXO31, EZR, CRADD, ADNP, ZDHHC15, SMS, PDHA1, L1CAM, IGBP1, HPRT1, EIF2S3 , (...)

View the complete list with 153 more genes

More info about this panel
1 % 100 %
Autosomal Recessive Non-Specific Intellectual Disability Panel

AP4B1, DDHD2, SLC25A1, L2HGDH, IDH2, ARFGEF2, ZC3H14, TUSC3, TRAPPC9, STXBP1, PRSS12, NRXN1, GRIK2, ERLIN2, CRBN, CA8, AP4S1, AP4M1, AP4E1, VPS13B , (...)

View the complete list with 16 more genes

More info about this panel
3 % 100 %
Mental retardation - different panels

UBR1, UPB1, GATM, MOGS, KIF11, BCS1L, ANKH, RAB3GAP1, COG5, TUBGCP6, RMND1, SPATA5, TUBA8, GBA2, ZNF711, ACOX1, ISPD, ATP6V0A2, SETD5, SURF1 , (...)

View the complete list with 847 more genes

More info about this panel
1 % 100 %
Eye Diseases - panels

ABCB6, ADAMTS2, BCOR, BMP7, VSX2, BFSP1, COL3A1, CRYBA4, CHD7, CHMP4B, EYA1, FAM126A, FBN1, GLA, GJA8, EPHA2, GRIP1, ERCC1, ERCC2, JAM3 , (...)

View the complete list with 147 more genes

More info about this panel
1 % 100 %
Mental Retardation and Dysmorphology - panels

HSD17B10, AGTR2, ANK3, ACSL4, ATRX, AGL, ARX, ATP7A, ALX3, ABCC6, ABCC9, BCOR, BRWD3, OFD1, CBL, CTNNB1, CDKL5, CHD7, CHD8, DKC1 , (...)

View the complete list with 323 more genes

More info about this panel
1 % 100 %
Syndromal Diseases - panels

CTNNB1, DCHS1, SMARCA2, SRPX2, NOG, FANCB, IGBP1, FHL1, GRIN2B, OPHN1, NHS, FAT4, EIF2S3, FGD1, PYGL, DOCK6, CHD7, PHKG2, IRF6, THOC2 , (...)

View the complete list with 322 more genes

More info about this panel
1 % 100 %
Microphthalmia-Anophthalmia-Coloboma Complex (MAC)

SALL2, BMP4, BCOR, ABCB6, CYP1B1, CRYBA4, CHD7, ERCC2, ERCC1, GDF6, GDF3, GJA1, RAX, HCCS, GRIP1, SOX2, MAB21L2, VSX2, TGIF1, RAB3GAP1 , (...)

View the complete list with 28 more genes

More info about this panel
3 % 100 %
AllNeuro panel

MTOR, JRK, CAV3, NXF5, AMPD2, SCN3A, ZCCHC12, ARSI, USP8, TTN, TBL1XR1, TFG, DHTKD1, ERLIN1, LIMS2, MAG, DAG1, HMGCS2, MTR, PTS , (...)

View the complete list with 1185 more genes

More info about this panel
1 % 100 %
Selected Genetic Syndromes with Seizures Panel

SMARCA2, TSC1, KMT2D, NSD1, PLA2G6, KDM6A, MED12, VPS13A, GNE, LAMA2, KCNJ10, C12orf57, DHCR7, PIGO, ROGDI, ZEB2, ATIC, PIGV, TSC2, RAI1

More info about this panel
5 % 100 %
Developmental Eye Disease panel

ABCB6, LHX2, SNX3, ISPD, GDF3, MAB21L2, BMP4, ELP4, ATOH7, RARB, PITX3, GDF6, FKRP, FKTN, SOX3, FOXC1, PITX2, VSX2, CYP1B1, PAX6 , (...)

View the complete list with 39 more genes

More info about this panel
2 % 100 %
epiSEEK® Comprehensive Sequence Analysis for Epilepsy and Seizure Disorders

MAP2K1, TSC1, BRAF, MAP2K2, NODAL, SOS1, ATP1A2, SCN5A, MET, DNAJC5, NDUFAF6, CCDC88C, ELP4, CHRNA7, OFD1, SCN1A, SCN11A, ATP6AP2, FAAH, CNTN2 , (...)

View the complete list with 411 more genes

More info about this panel
1 % 100 %
devSEEK® Sequence Analysis for Neurodevelopmental Disorders

UBE3A, RAB39B, PNKP, PAFAH1B1, MED12, MECP2, FLNA, EBP, STXBP1, ATRX, ARX, ARFGEF2, GRIN2B, DYNC1H1, FMN2, ZMYND11, METTL23, L1CAM, ADNP, SOX11 , (...)

View the complete list with 181 more genes

More info about this panel
1 % 100 %
Invitae Epilepsy Panel

UBE3A, SYNJ1, ITPA, ATP1A3, PRRT2, CHRNA2, PNKP, ARX, TBC1D24, SCN3A, GRIN2B, GABRA1, SYNGAP1, WWOX, STXBP1, SZT2, SPTAN1, SCN1A, CHD2, HNRNPU , (...)

View the complete list with 105 more genes

More info about this panel
1 % 100 %
C12orf57

C12orf57

More info about this panel
100 % 100 %
Comprehensive Epilepsy NGS Panel

SHOC2, COG7, STIL, SMS, KAT6B, SUMF1, GLRB, ABCB1, COQ2, EFHC2, GLI2, ME2, PEX7, POMT1, KMT2D, NDUFA1, LBR, NRAS, NPC1, RFT1 , (...)

View the complete list with 427 more genes

More info about this panel
1 % 100 %

Alternate names

Temtamy Syndrome Is also known as mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum;.

Sources

ORPHANET OMIM

Other rare diseases that you may find interesting

BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT