X-linked Intellectual Disability, Golabi-ito-hall Type
Description
Golabi-Ito-Hall syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.
Genes related to X-linked Intellectual Disability, Golabi-ito-hall Type
- PQBP1
Clinical Features
Top most frequent phenotypes and symptoms related to X-linked Intellectual Disability, Golabi-ito-hall Type
- Intellectual disability
- Seizures
- Short stature
- Microcephaly
- Growth delay
- Spasticity
- Epicanthus
- Atrial septal defect
- Upslanted palpebral fissure
- Protruding ear
And another 9 symptoms. If you need more information about this disease we can help you.
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.
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.X-linked Intellectual Disability, Golabi-ito-hall Type Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Epilepsy Advanced Sequencing and CNV Evaluation - Developmental Brain Malformations.
By Athena Diagnostics Inc (United States).
SHH, STIL, SIX3, TUBA8, SLC25A19, DEAF1, ARFGEF2, RAB3GAP1, CENPJ, NDE1, FKRP, ARX, ASPM, POMGNT1, POMT2, TUBA1A, COL4A1, CPT2, WDR62, DCX , (...)
View the complete list with 20 more genes
Specificity
3 %
Genes
100 % |
Epilepsy Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)
View the complete list with 214 more genes
Specificity
1 %
Genes
100 % |
Epilepsy Advanced Sequencing and CNV Evaluation - Intellectual Disability.
By Athena Diagnostics Inc (United States).
SLC35A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SNAP25, CDKL5, SYN1, SYP, CACNA2D1, PCDH19, ARHGEF9, DEAF1, CASK, ALG9, RAB39B, BCKDK, ARX, SPATA5 , (...)
View the complete list with 36 more genes
Specificity
2 %
Genes
100 % |
Syndromic Autism Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)
View the complete list with 63 more genes
Specificity
2 %
Genes
100 % |
NGS XLID Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)
View the complete list with 94 more genes
Specificity
1 %
Genes
100 % |
Rett-Angelman Syndrome 2nd-Tier Sequencing Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SLC2A1, SLC9A6, CDKL5, TCF4, UBE3A, CNTNAP2, PCDH19, ZEB2, ARX, MBD5, EHMT1, CTNNB1, FOLR1, FOXG1, MECP2, MEF2C, NRXN1, OPHN1, ATRX, PNKP , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
Hereditary Spastic Paraplegia Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RTN2, SACS, SLC16A2, SLC2A1, KDM5C, SPG11, ATL1, SPAST, SPG7, TFG, ACOX1, TREX1, UCHL1, VAMP1, ERLIN2, CAPN1, BSCL2, SAMHD1, PNPLA6, ERLIN1 , (...)
View the complete list with 59 more genes
Specificity
2 %
Genes
100 % |
Renpenning syndrome 1.
By Center for Human Genetics, Inc (United States).
PQBP1
Specificity
100 %
Genes
100 % |
You can get up to 66 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO; OSFD