Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome; Morms

Description

MORM syndrome is characterised by the association of intellectual deficit, truncal obesity, retinal dystrophy and micropenis. It has been described in 14 individuals from a consanguineous family. It is transmitted in an autosomal recessive manner. The causative locus has been mapped to chromosome region 9q34.

Clinical Features

Top most frequent phenotypes and symptoms related to Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome; Morms

  • Intellectual disability
  • Microcephaly
  • Abnormal facial shape
  • Cataract
  • Visual impairment
  • Delayed speech and language development
  • Tics
  • Obesity
  • Micropenis
  • Polydactyly
And another 4 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome; Morms Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories in United States.

BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)

View the complete list with 617 more genes
Specificity
1 %
Genes
100 %
Bardet-Biedl Syndrome Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

INPP5E, TMEM67, KCNJ13, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, C8orf37, CCDC28B, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Joubert Syndrome.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Joubert/Meckel-Gruber syndrome Panel.

By Genetic Services Laboratory University of Chicago in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Renal Cystic Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago in United States.

VHL, INVS, HNF1B, INPP5E, CC2D2A, JAG1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, XPNPEP3, IQCB1, BBS7, BBS5, BBS12 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago in United States.

FMR1, TTR, UBE3A, AARS2, ABHD12, PC, UQCRQ, UQCRB, HLCS, BTD, ATP7B, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, ADSL, PRKCG , (...)

View the complete list with 460 more genes
Specificity
1 %
Genes
100 %
Comprehensive Brain Malformations Panel.

By GeneDx in United States.

TUBB3, INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TUBA1A, RARS2, MKS1, ARX, FKTN, POMGNT1, TMEM216, AHI1, FKRP, VRK1, POMT2, POMT1, LARGE1, ARFGEF2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
INPP5E. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

INPP5E
Specificity
100 %
Genes
100 %
Joubert Syndrome (sequence analysis of INPP5E gene).

By CGC Genetics in Portugal.

INPP5E
Specificity
100 %
Genes
100 %
Joubert syndrome (NGS panel for 24 genes).

By CGC Genetics in Portugal.

INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TMEM216, AHI1, OFD1, TMEM231, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, TCTN3 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Ciliopathies (NGS panel for 90 genes).

By CGC Genetics in Portugal.

INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, CCDC39, CCDC28B, XPNPEP3, IQCB1, BBS7, BBS5, BBS12, MKS1 , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, TULP1, SAG, RPGRIP1, RPE65, RLBP1 , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Leber Congenital Amaurosis Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AIPL1, SPATA7, INPP5E, OTX2, CNGB3, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, GNAT2, LRAT, RDH12, RD3 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, CACNA1F, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1 , (...)

View the complete list with 60 more genes
Specificity
2 %
Genes
100 %
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Joubert Syndrome via the INPP5E Gene.

By PreventionGenetics PreventionGenetics in United States.

INPP5E
Specificity
100 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
Ciliopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, IQCB1, BBS7, BBS5, BBS12, MKS1, BBS9 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Leber congenital amaurosis and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Leber congenital amaurosis and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Leber congenital amaurosis and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

AIPL1, SPATA7, INPP5E, OTX2, KCNJ13, CEP290, PRPH2, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, SNRNP200 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Joubert syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, SUFU, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Joubert syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, SUFU, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Joubert syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, SUFU, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
Hereditary kidney disorders - different panels.

By Institute of Human Genetics Cologne University in Germany.

VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...)

View the complete list with 391 more genes
Specificity
1 %
Genes
100 %
INPP5E-Related Joubert Syndrome.

By Bioscientia GmbH Center for Human Genetics in Germany.

INPP5E
Specificity
100 %
Genes
100 %
Joubert syndrome type 1.

By Centogene AG - the Rare Disease Company in Germany.

INPP5E
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Joubert Syndrome Panel.

By CeGaT GmbH in Germany.

INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Joubert Syndrome Panel.

By CeGaT GmbH in Germany.

INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Joubert Syndrome Panel.

By CeGaT GmbH in Germany.

INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Ataxia and differential diagnoses Panel.

By CeGaT GmbH in Germany.

FMR1, AARS2, ABHD12, UQCRQ, BTD, ATP7B, AUH, TWNK, PRKCG, PAX6, INPP5E, AMACR, OPA1, WFS1, GLB1, CC2D2A, ELOVL4, TMEM67, NPHP1, CEP290 , (...)

View the complete list with 184 more genes
Specificity
1 %
Genes
100 %
Joubert Syndrome Panel.

By CeGaT GmbH in Germany.

INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Joubert Syndrome.

By Asper Biogene Asper Biogene LLC in Estonia.

INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41 , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
100 %
Brain malformations.

By Asper Biogene Asper Biogene LLC in Estonia.

TUBB3, INPP5E, CC2D2A, ATP6V0A2, SRD5A3, TMEM67, NPHP1, CEP290, DLD, SLC25A19, MECP2, PDHB, TUBA1A, RARS2, PDP1, GCSH, GLDC, AMT, PDHA1, DLAT , (...)

View the complete list with 125 more genes
Specificity
1 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
100 %
Bardet-Biedl syndrome panel.

By Molecular Vision Laboratory in United States.

INPP5E, KCNJ13, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, C8orf37, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, LZTFL1, IFT27 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Joubert Syndrome Panel.

By Molecular Vision Laboratory in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
100 %
MORM syndrome.

By Praxis fuer Humangenetik Wien in Austria.

INPP5E
Specificity
100 %
Genes
100 %
Joubert syndrome 1.

By Praxis fuer Humangenetik Wien in Austria.

INPP5E
Specificity
100 %
Genes
100 %
Joubert syndrome 1.

By MedGene in Slovakia.

INPP5E
Specificity
100 %
Genes
100 %
MORM syndrome.

By MedGene in Slovakia.

INPP5E
Specificity
100 %
Genes
100 %
Invitae Joubert and Meckel-Gruber Syndromes Panel.

By Invitae in United States.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, MRE11, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Invitae Ciliopathies Panel.

By Invitae in United States.

INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, XPNPEP3, IQCB1, BBS7, BBS5, BBS12, MKS1 , (...)

View the complete list with 82 more genes
Specificity
1 %
Genes
100 %
INPP5E.

By Fulgent Genetics Fulgent Genetics in United States.

INPP5E
Specificity
100 %
Genes
100 %
KidneySeq - 264 Genes.

By Iowa Institute of Human Genetics University of Iowa in United States.

TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...)

View the complete list with 232 more genes
Specificity
1 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
100 %
Ataxia Panel.

By Blueprint Genetics in Finland.

FMR1, ABHD12, TWNK, PRKCG, PAX6, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, POLG, NDUFS4, AFG3L2 , (...)

View the complete list with 137 more genes
Specificity
1 %
Genes
100 %
Joubert Syndrome Panel.

By Blueprint Genetics in Finland.

INPP5E, CC2D2A, TMEM67, NPHP3, NPHP1, CEP290, MKS1, TMEM216, AHI1, OFD1, TMEM231, KIAA0586, CFAP410, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Ciliopathy Panel.

By Blueprint Genetics in Finland.

INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, C8orf37, IQCB1, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
Congenital Hepatic Fibrosis Panel.

By Blueprint Genetics in Finland.

INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, IQCB1, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4 , (...)

View the complete list with 32 more genes
Specificity
2 %
Genes
100 %
Joubert syndrome Type 1.

By Bioarray in Spain.

INPP5E
Specificity
100 %
Genes
100 %
JOUBERT SYNDROME (JBTS).

By Laboratorio de Genetica Clinica SL in Spain.

INPP5E, CC2D2A, TMEM67, NPHP1, CEP290, TMEM216, AHI1, OFD1, RPGRIP1L, CPLANE1, ARL13B
Specificity
10 %
Genes
100 %
Joubert Syndrome Type 1, Sequencing INPP5E Gene.

By Reference Laboratory Genetics in Spain.

INPP5E
Specificity
100 %
Genes
100 %
Joubert Syndrome , Panel Massive Sequencing (NGS) 13 Genes.

By Reference Laboratory Genetics in Spain.

INPP5E, CC2D2A, TMEM67, CEP290, TMEM216, AHI1, OFD1, TMEM237, TMEM138, RPGRIP1L, KIF7, CEP41, ARL13B
Specificity
8 %
Genes
100 %

Alternate names

Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome; Morms Is also known as morm syndrome;intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome; mental retardation-truncal obesity-retinal dystrophy-micropenis syndrome.



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