Retinitis Pigmentosa With Or Without Skeletal Anomalies; Rpska

Clinical Features

Top most frequent phenotypes and symptoms related to Retinitis Pigmentosa With Or Without Skeletal Anomalies; Rpska

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Micrognathia
  • Abnormal facial shape
  • Low-set ears
  • Feeding difficulties
  • Delayed speech and language development
  • Brachydactyly
  • Downslanted palpebral fissures
And another 21 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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Retinitis Pigmentosa With Or Without Skeletal Anomalies; Rpska Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CWC27.

By Institute for Human Genetics University Clinic Freiburg in Germany.

CWC27
Specificity
100 %
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 %
Leber Congenital Amaurosis Panel.

By Blueprint Genetics in Finland.

AIPL1, SPATA7, KCNJ13, CEP290, TULP1, RPGRIP1, RPE65, IMPDH1, GUCY2D, CRX, CRB1, MERTK, LRAT, RDH12, RD3, CABP4, IQCB1, LCA5, MYO7A, CNGA3 , (...)

View the complete list with 6 more genes
Specificity
4 %
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 %

Alternate names

Retinitis Pigmentosa With Or Without Skeletal Anomalies; Rpska Is also known as metaphyseal chondrodysplasia with retinitis pigmentosa;.


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