Genitopatellar Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.

Genes related to Genitopatellar Syndrome

KAT6B
DUPD1

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Clinical Features

Top most frequent phenotypes and symptoms related to Genitopatellar Syndrome

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia
Hearing impairment
Microcephaly
Hypertelorism
Micrognathia
Sensorineural hearing impairment

And another 89 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

Genitopatellar Syndrome Is also known as absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome, absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.

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.

Genitopatellar Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...) View the complete list with 66 more genes Panel complete gene list RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9, CDAN1, KAT6B, ALG1, CHRNA1, CHRND, CHRNG, CANT1, KIAA0586, CLCNKA, CLCNKB, SUMF1, PEX26, FAT4, DHCR7, PIEZO1, WDR35, CCBE1, GNPTAB, FGFR3, FOXC2, G6PD, GALNS, GATA1, GBA, GBE1, GLA, GLB1, GUSB, HADHA, HADHB, HRAS, IDUA, FOXP3, KLF1, KIF23, KRAS, LBR, LIPA, LZTR1, MAP2K1, MAP2K2, MID1, KMT2D, ASAH1, MVK, NEU1, NPC1, NRAS, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PIGA, PKLR, PMM2, CTSA, PTH1R, PTPN11, PEX19, PEX5, RAF1, RASA1 Specificity 2 % Genes 50 %
NGS RASopathy Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS , (...) View the complete list with 3 more genes Panel complete gene list RIT1, RRAS, BRAF, SOS1, SOS2, CBL, SHOC2, KAT6B, SPRED1, A2ML1, CABIN1, NSUN2, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NF2, NRAS, PTPN11, RAF1, RASA2 Specificity 5 % Genes 50 %
KAT6B Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). KAT6B Specificity 100 % Genes 50 %
KAT6B Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). KAT6B Specificity 100 % Genes 50 %
Noonan Spectrum Disorders Panel, Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RIT1, BRAF, SOS1, CBL, SHOC2, KAT6B, SPRED1, RAB40AL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1 Specificity 7 % Genes 50 %
Noonan Spectrum Disorders Panel, Sequencing, Fetal. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RIT1, BRAF, SOS1, CBL, SHOC2, KAT6B, SPRED1, RAB40AL, HRAS, KRAS, MAP2K1, MAP2K2, NRAS, PTPN11, RAF1 Specificity 7 % Genes 50 %
KAT6B. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). KAT6B Specificity 100 % Genes 50 %
KAT6B. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). KAT6B Specificity 100 % Genes 50 %

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Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Symptoms Checker

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