Kahrizi Syndrome; Khrz

Description

Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009).See also congenital disorder of glycosylation type Iq (CDG1Q ), an allelic disorder with overlapping features.

Clinical Features

Top most frequent phenotypes and symptoms related to Kahrizi Syndrome; Khrz

  • Intellectual disability
  • Seizures
  • Cataract
  • Flexion contracture
  • Motor delay
  • Wide nasal bridge
  • Intellectual disability, severe
  • Kyphosis
  • Coarse facial features
  • Coloboma

And another 10 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Kahrizi Syndrome; Khrz Is also known as mental retardation, cataract, coloboma, and kyphosis, autosomal recessive.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Kahrizi Syndrome; Khrz Recommended genes panels

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

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Congenital Disorders of Glycosylation Panel.

By Baylor Miraca Genetics Laboratories (United States).

SLC35A1, ALG9, ALG1, ATP6V0A2, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DPAGT1, DPM1, DPM3, RFT1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Congenital Disorders of Glycosylation.

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

SLC35A1, COG5, ALG9, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DDOST , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Cerebral Cortical Malformation Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Lissencephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SNAP29, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, NDE1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB, SRD5A3, POMGNT2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Comprehensive Lissencephaly Panel.

By Genetic Services Laboratory University of Chicago (United States).

SNAP29, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB, SRD5A3, POMK, DCX , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Cobblestone Lissencephaly Panel.

By Genetic Services Laboratory University of Chicago (United States).

SNAP29, RXYLT1, B4GAT1, FKRP, ATP6V0A2, POMGNT1, POMT2, GMPPB, SRD5A3, POMK, B3GALNT2, FKTN, ISPD, LAMA2, LAMB1, LARGE1, POMT1
Specificity
6 %
Genes
100 %
Cerebral Cortical Malformations Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

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