Mental Retardation, X-linked 72; Mrx72
Clinical Features
Phenotypes and symptoms related to Mental Retardation, X-linked 72; Mrx72
- Intellectual disability
 - Seizures
 - Global developmental delay
 - Macrocephaly
 - Obesity
 - Hyperactivity
 - Autism
 - Dolichocephaly
 - Long face
 - Stereotypy
 
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.Mental Retardation, X-linked 72; Mrx72 Recommended genes panels
| Panel Name, Specifity and genes Tested/covered | 
|---|
 	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 %  | 
 	X-Linked Mental Retardation Type 72 (RAB39B).
By Center for Human Genetics, Inc (United States). 
RAB39B
 
Specificity
 
100 % 
Genes
 
100 %  | 
 	Autism Spectrum Disorders 53-Gene Panel.
By Center for Human Genetics, Inc (United States). 
RPL10, SYN1, SYNGAP1, TSPAN7, PCDH10, CNTNAP2, SH3KBP1, CACNA1H, PCDH19, NLGN4X, NLGN3, NLGN1, SHANK3, SHANK2, WNK3, DIAPH3, RAB39B, NOS1AP, ASTN2, CNTNAP5	, (...)
 
View the complete list with 32 more genes 
Specificity
 
2 % 
Genes
 
100 %  | 
 	X-Linked Intellectual Disabilities Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). 
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X	, (...)
 
View the complete list with 68 more genes 
Specificity
 
2 % 
Genes
 
100 %  | 
 	X-linked Intellectual Disabilities Sequencing.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). 
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X	, (...)
 
View the complete list with 68 more genes 
Specificity
 
2 % 
Genes
 
100 %  | 
You can get up to 46 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM MESH Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED; SEMDX 46,XY SEX REVERSAL 1; SRXY1 SPINAL MUSCULAR ATROPHY, JOKELA TYPE; SMAJ AYME-GRIPP SYNDROME; AYGRP SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
	Epilepsy Advanced Sequencing and CNV Evaluation.