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
  • Dental crowding
  • Short toe
And 33 less frequent phethotypes (you can get a complete list using our application).

Genes related to Temtamy Syndrome

  • C12orf57

Temtamy Syndrome Recommended genes panels

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

TAF2, NDST1, ARID1A, ADNP, SMARCA4, GRIN1, DDHD2, SLC25A1, D2HGDH, PCNT, DYNC1H1, SYNGAP1, FOXG1, ZNF674, SLC9A6, PHF8, OPHN1, IQSEC2, HSD17B10, GDI1 , (...)

View the complete list with 153 more genes

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

MED23, STXBP1, IDH2, ALG6, ZC3H14, TRAPPC9, AP4M1, DDHD2, SLC25A1, D2HGDH, PCNT, CNTNAP2, NSUN2, MAN1B1, CRBN, AP4S1, AP4B1, TECR, L2HGDH, C12orf57 , (...)

View the complete list with 16 more genes

More info about this panel
3 % 100 %
Eye Diseases - panels

ADAMTS10, TREX1, ADAMTS2, ACTG1, ALDH1A3, PHOX2A, ADAMTS17, BCOR, BMP7, VSX2, CTDP1, COL3A1, CHD7, COL9A1, ERCC6, CRYBA1, CRYBB1, CYP4V2, CHMP4B, FRMD7 , (...)

View the complete list with 146 more genes

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

A2ML1, HSD17B10, ACTG1, AP1S2, AGTR2, IDUA, DHCR7, ARX, ARID1A, ALX3, ABCC6, CTCF, BCOR, CACNG2, OFD1, CUL4B, CDKL5, CHD7, CHD8, DKC1 , (...)

View the complete list with 321 more genes

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

A2ML1, DCHS1, MCOLN1, OPHN1, SMARCB1, SMPD1, CREBBP, ERCC6, HERC2, EMD, AP1S2, PORCN, SOX3, MAOA, SRCAP, BCOR, DLG3, HDAC8, KIF7, GRIN1 , (...)

View the complete list with 322 more genes

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

BCOR, CHD7, RAB3GAP2, GDF6, FREM2, GJA1, RAX, HCCS, GRIP1, ZIC2, STRA6, MFRP, ALDH1A3, VSX2, PAX2, RAB3GAP1, PRSS56, RAB18, HMX1, TFAP2A , (...)

View the complete list with 28 more genes

More info about this panel
3 % 100 %
AllNeuro panel

ADSL, JRK, CAV3, VDAC1, AMPD2, ARSI, TTN, NEDD4L, TFG, DHTKD1, MAG, MTHFR, ABHD5, ACTG1, ALG12, ALG6, ACY1, ADK, AGXT, IDUA , (...)

View the complete list with 1185 more genes

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

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

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

FOXC2, TMEM98, LHX2, SNX3, PAX2, ISPD, RAB3GAP2, FOXE3, RARB, GDF6, FKRP, FKTN, SOX3, PITX2, VSX2, MFRP, CHD7, SIX3, COL4A1, SLC25A1 , (...)

View the complete list with 39 more genes

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

ADSL, MAP2K1, TSC1, TSC2, BRAF, TREX1, NODAL, SOS1, ATP1A2, SCN5A, SCN4B, MET, NDUFAF6, OFD1, SCN1A, SCN11A, CNTN2, SCN2B, CTSF, MLC1 , (...)

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, MECP2, FLNA, STXBP1, ARX, TBX1, GRIN2B, D2HGDH, DYNC1H1, SLC6A17, NDST1, SETBP1, METTL23, L1CAM, ADNP, SOX11, USP9X , (...)

View the complete list with 181 more genes

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

UBE3A, SYNJ1, PIGO, SNX27, ITPA, EEF1A2, PRRT2, PNKP, ARX, TBC1D24, GRIN2B, GABRA1, SYNGAP1, KCNT1, SCN8A, WWOX, GABRG2, STXBP1, GNAO1, GRIN2A , (...)

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

ALG6, COG7, SMS, SIK1, ABCB1, NDUFS3, COQ2, EFHC2, BOLA3, GLI2, VANGL1, POMT1, PEX26, NDUFA1, PCNT, SLC6A1, NRAS, NPC1, GCDH, KDM6A , (...)

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