Entry Search - 300188 300895 305450 309520 612726

Search: '300188 300895 305450 309520 612726 (Search in: MIM number)'

Results: 5 entries.

^ 612726. MOVED TO 301068
Matching terms: 612726

# 309520. INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE; MRXSLF
Cytogenetic location: Xq13.1
Matching terms: 309520
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
Xq13.1	Lujan-Fryns syndrome	309520	XLR	3	MED12	300188

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Intellectual developmental disorder, X-linked syndromic - PS309510 - 56 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
Xp22.2	Raynaud-Claes syndrome	XLD	3	300114	CLCN4	302910
Xp22.2	Basilicata-Akhtar syndrome	XLD	3	301032	MSL3	300609
Xp22.2	Intellectual developmental disorder, X-linked syndromic, Pilorge type	XL	3	301076	GLRA2	305990
Xp22.2	Pettigrew syndrome	XLR	3	304340	AP1S2	300629
Xp22.12	Intellectual developmental disorder, X-linked syndromic, Houge type	XL	3	301008	CNKSR2	300724
Xp22.11	Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type	XLR	3	309583	SMS	300105
Xp22.11	MEHMO syndrome	XLR	3	300148	EIF2S3	300161
Xp22.11	Intellectual developmental disorder, X-linked syndromic 37	XL	3	301118	ZFX	314980
Xp22.11-p21.3	Van Esch-O'Driscoll syndrome	XLR	3	301030	POLA1	312040
Xp21.3	Partington syndrome	XLR	3	309510	ARX	300382
Xp21.1-p11.23	Intellectual developmental disorder, X-linked syndromic 17	XLR	2	300858	MRXS17	300858
Xp11	?Intellectual developmental disorder, X-linked syndromic 12	XL	2	309545	MRXS12	309545
Xp11.4	Intellectual developmental disorder, X-linked syndromic, Hedera type	XLR	3	300423	ATP6AP2	300556
Xp11.4	Intellectual developmental disorder, X-linked syndromic, Snijders Blok type	XLD, XLR	3	300958	DDX3X	300160
Xp11.4	Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia	XL	3	300749	CASK	300172
Xp11.3-q22	Intellectual developmental disorder, X-linked syndromic 7	XL	2	300218	MRXS7	300218
Xp11.2	Intellectual developmental disorder, X-linked, syndromic, Stocco dos Santos type	XL	2	300434	SDSX	300434
Xp11.23	Renpenning syndrome	XLR	3	309500	PQBP1	300463
Xp11.22	Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type	XLR	3	300534	KDM5C	314690
Xp11.22	Intellectual developmental disorder, X-linked syndromic, Turner type	XL	3	309590	HUWE1	300697
Xp11.22	Intellectual developmental disorder, X-linked syndromic, Siderius type	XLR	3	300263	PHF8	300560
Xp11.22	Prieto syndrome	XLR	3	309610	WNK3	300358
Xp11.22	Aarskog-Scott syndrome	XLR	3	305400	FGD1	300546
Xp11.22	Intellectual developmental disorder, X-linked syndromic 16	XLR	3	305400	FGD1	300546
Xq11.2	Wieacker-Wolff syndrome	XLR	3	314580	ZC4H2	300897
Xq12-q21.31	Intellectual developmental disorder, X-linked syndromic 9		2	300709	MRXS9	300709
Xq12	Wilson-Turner syndrome	XLR	3	309585	LAS1L	300964
Xq12	Intellectual developmental disorder, X-linked syndromic, Billuart type	XLR	3	300486	OPHN1	300127
Xq13-q21	Martin-Probst syndrome	XLR	2	300519	MRXSMP	300519
Xq13.1	?Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia	XLR	3	300472	IGBP1	300139
Xq13.1	Lujan-Fryns syndrome	XLR	3	309520	MED12	300188
Xq13.1	Intellectual developmental disorder, X-linked syndromic 34	XL	3	300967	NONO	300084
Xq13.1	Intellectual developmental disorder, X-linked syndromic 33	XLR	3	300966	TAF1	313650
Xq13.2	Intellectual developmental disorder, X-linked syndromic, Abidi type	XL	2	300262	MRXSAB	300262
Xq13.2	Tonne-Kalscheuer syndrome	XL	3	300978	RLIM	300379
Xq21.33-q23	Intellectual developmental disorder, X-linked syndromic, Chudley-Schwartz type	XLR	2	300861	MRXSCS	300861
Xq22.1	Intellectual developmental disorder, X-linked syndromic, Bain type	XLD	3	300986	HNRNPH2	300610
Xq22.3	Arts syndrome	XLR	3	301835	PRPS1	311850
Xq24	Intellectual developmental disorder, X-linked syndromic, Nascimento type	XLR	3	300860	UBE2A	312180
Xq24	Intellectual developmental disorder, X-linked syndromic 14	XLR	3	300676	UPF3B	300298
Xq24	Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type	XLR	3	301039	NKAP	300766
Xq24	Intellectual developmental disorder, X-linked syndromic, Cabezas type	XLR	3	300354	CUL4B	300304
Xq25	Intellectual developmental disorder, X-linked syndromic, Wu type	XLR	3	300699	GRIA3	305915
Xq26.1	Intellectual developmental disorder, X-linked syndromic, Raymond type	XL	3	300799	ZDHHC9	300646
Xq26.2	?Paganini-Miozzo syndrome	XLR	3	301025	HS6ST2	300545
Xq26.2	Borjeson-Forssman-Lehmann syndrome	XLR	3	301900	PHF6	300414
Xq26.3	Intellectual developmental disorder, X-linked syndromic, Christianson type	XL	3	300243	SLC9A6	300231
Xq26.3	?Intellectual developmental disorder, X-linked syndromic, Shashi type	XLR	3	300238	RBMX	300199
Xq26.3	?Intellectual developmental disorder, X-linked syndromic, Gustavson type	XLR	3	309555	RBMX	300199
Xq27.3	Fragile X syndrome	XLD	3	300624	FMR1	309550
Xq28	Intellectual developmental disorder, X-linked 109	XLR	3	309548	AFF2	300806
Xq28	Intellectual developmental disorder, X-linked syndromic, Lubs type	XLR	3	300260	MECP2	300005
Xq28	Intellectual developmental disorder, X-linked syndromic 13	XLR	3	300055	MECP2	300005
Xq28	Intellectual developmental disorder, X-linked syndromic 35	XLR	3	300998	RPL10	312173
Xq28	Intellectual developmental disorder, X-linked syndromic, Armfield type	XLR	3	300261	FAM50A	300453
Xq28	?Intellectual developmental disorder, X-linked syndromic 32	XLR	3	300886	CLIC2	300138

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR GARD OrphaNet POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene Wormbase Disease Ontology

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ICD+
SNOMEDCT: 422437002 ORPHA: 776 DO: 0080985

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* 300188. MEDIATOR COMPLEX SUBUNIT 12; MED12
Cytogenetic location: Xq13.1, Genomic coordinates (GRCh38): X:71,118,596-71,142,450
Matching terms: 300188
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xq13.1	Hardikar syndrome	301068	XLD	3
	Lujan-Fryns syndrome	309520	XLR	3
	Ohdo syndrome, X-linked	300895	XLR	3
	Opitz-Kaveggia syndrome	305450	XLR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 422437002, 49984004, 699297004, 720636001

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# 300895. OHDO SYNDROME, X-LINKED; OHDOX
Cytogenetic location: Xq13.1
Matching terms: 300895
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
Xq13.1	Ohdo syndrome, X-linked	300895	XLR	3	MED12	300188

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews MedlinePlus Genetics GTR OrphaNet POSSUM	Animal Models NCBI HomoloGene

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ICD+
SNOMEDCT: 699297004 ORPHA: 293707 DO: 0060289

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# 305450. OPITZ-KAVEGGIA SYNDROME; OKS
Cytogenetic location: Xq13.1
Matching terms: 305450
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
Xq13.1	Opitz-Kaveggia syndrome	305450	XLR	3	MED12	300188

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FG syndrome - PS305450 - 6 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
Xp22.3	FG syndrome 3	XL	2	300406	FGS3	300406
Xp11.4	FG syndrome 4	XLR	3	300422	CASK	300172
Xp11.4	Intellectual developmental disorder, with or without nystagmus	XLR	3	300422	CASK	300172
Xq13.1	Opitz-Kaveggia syndrome	XLR	3	305450	MED12	300188
Xq22.3	FG syndrome 5	XL	2	300581	FGS5	300581
Xq28	?FG syndrome 2	XL	3	300321	FLNA	300017

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR GARD OrphaNet POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene Wormbase Disease Ontology

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ICD+
SNOMEDCT: 1237179007, 49984004 ORPHA: 93932 DO: 14711

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Search: 300188 300895 305450 309520 612726 (Search in: MIM number)

Results: 5 entries.

^ 612726. MOVED TO 301068
Matching terms: 612726

# 309520. INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUJAN-FRYNS TYPE; MRXSLF
Cytogenetic location: Xq13.1
Matching terms: 309520

* 300188. MEDIATOR COMPLEX SUBUNIT 12; MED12
Cytogenetic location: Xq13.1, Genomic coordinates (GRCh38): X:71,118,596-71,142,450
Matching terms: 300188

# 300895. OHDO SYNDROME, X-LINKED; OHDOX
Cytogenetic location: Xq13.1
Matching terms: 300895

# 305450. OPITZ-KAVEGGIA SYNDROME; OKS
Cytogenetic location: Xq13.1
Matching terms: 305450

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Printed: April 28, 2024