Entry Search - 135900 184430 600898 601607 601671 601734 603024 603111 603254 609539 614556 617808 618027 618362 618506

Search: '135900 184430 600898 601607 601671 601734 603024 603111 603254 609539 614556 617808 618027 618362 618506 (Search in: MIM number)'

Results: 15 entries.

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# 135900. COFFIN-SIRIS SYNDROME 1; CSS1
Cytogenetic location: 6q25.3
Matching terms: 135900
► 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
6q25.3	Coffin-Siris syndrome 1	135900	AD	3	ARID1B	614556

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Intellectual developmental disorder, autosomal dominant - PS156200 - 66 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.11	Coffin-Siris syndrome 2	AD	3	614607	ARID1A	603024
1q21.3	White-Sutton syndrome	AD	3	616364	POGZ	614787
1q21.3	GAND syndrome	AD	3	615074	GATAD2B	614998
1q22	Intellectual developmental disorder, autosomal dominant 52	AD	3	617796	ASH1L	607999
1q44	Intellectual developmental disorder, autosomal dominant 22	AD	3	612337	ZBTB18	608433
2p25.3	Intellectual developmental disorder, autosomal dominant 39	AD	3	616521	MYT1L	613084
2q11.2	?Intellectual developmental disorder, autosomal dominant 69		3	617863	LMAN2L	609552
2q23.1	Intellectual developmental disorder, autosomal dominant 1	AD	3	156200	MBD5	611472
3p25.3	Intellectual developmental disorder, autosomal dominant 23	AD	3	615761	SETD5	615743
3p21.31	Intellectual developmental disorder, autosomal dominant 70	AD	3	620157	SETD2	612778
3q22.3	Intellectual developmental disorder, autosomal dominant 47	AD	3	617635	STAG1	604358
3q26.32	Intellectual developmental disorder, autosomal dominant 41	AD	3	616944	TBL1XR1	608628
3q27.1	Intellectual developmental disorder 60 with seizures	AD	3	618587	AP2M1	601024
4q31.1	Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities	AD	3	617787	NAA15	608000
5p15.2	Intellectual developmental disorder, autosomal dominant 63, with macrocephaly	AD	3	618825	TRIO	601893
5p15.2	Intellectual developmental disorder, autosomal dominant 44, with microcephaly	AD	3	617061	TRIO	601893
5q13.3	Intellectual developmental disorder, autosomal dominant 34	AD	3	616351	COL4A3BP	604677
5q32	Intellectual developmental disorder, autosomal dominant 53	AD	3	617798	CAMK2A	114078
5q33.2	Intellectual developmental disorder, autosomal dominant 67	AD	3	619927	GRIA1	138248
6p21.32	Intellectual developmental disorder, autosomal dominant 5	AD	3	612621	SYNGAP1	603384
6q13	Intellectual developmental disorder, autosomal dominant 46	AD	3	617601	KCNQ5	607357
6q14.3	Intellectual developmental disorder, autosomal dominant 64	AD	3	619188	ZNF292	616213
6q22.1	Intellectual developmental disorder, autosomal dominant 55, with seizures	AD	3	617831	NUS1	610463
6q24.2	Intellectual developmental disorder, autosomal dominant 43	AD	3	616977	HIVEP2	143054
6q25.3	Coffin-Siris syndrome 1	AD	3	135900	ARID1B	614556
7p22.1	Intellectual developmental disorder, autosomal dominant 48	AD	3	617751	RAC1	602048
7p13	Intellectual developmental disorder, autosomal dominant 54	AD	3	617799	CAMK2B	607707
7q11.22	Intellectual developmental disorder, autosomal dominant 26	AD	3	615834	KIAA0442	607270
7q36.2	Intellectual developmental disorder, autosomal dominant 33	AD	3	616311	DPP6	126141
9p24	Intellectual developmental disorder, autosomal dominant 2	AD	4	614113	MRD2	614113
9q34.11	Intellectual developmental disorder, autosomal dominant 58	AD	3	618106	SET	600960
9q34.3	Kleefstra syndrome 1	AD	3	610253	EHMT1	607001
10p15.3	Intellectual developmental disorder, autosomal dominant 30	AD	3	616083	ZMYND11	608668
10q22.2	Intellectual developmental disorder, autosomal dominant 59	AD	3	618522	CAMK2G	602123
11p15.5	Vulto-van Silfout-de Vries syndrome	AD	3	615828	DEAF1	602635
11q13.1	Coffin-Siris syndrome 7	AD	3	618027	DPF2	601671
11q13.1-q13.2	Schuurs-Hoeijmakers syndrome	AD	3	615009	PACS1	607492
11q13.2	Intellectual developmental disorder, autosomal dominant 51	AD	3	617788	KMT5B	610881
11q24.2	Intellectual developmental disorder, autosomal dominant 4	AD	2	612581	MRD4	612581
12p13.1	Intellectual developmental disorder, autosomal dominant 6, with or without seizures	AD	3	613970	GRIN2B	138252
12q12	Coffin-Siris syndrome 6	AD	3	617808	ARID2	609539
12q13.12	Intellectual developmental disorder, autosomal dominant, FRA12A type	AD	3	136630	DIP2B	611379
12q13.2	Coffin-Siris syndrome 8	AD	3	618362	SMARCC2	601734
12q21.33	Intellectual developmental disorder, autosomal dominant 66	AD	3	619910	ATP2B1	108731
14q11.2	Intellectual developmental disorder, autosomal dominant 74	AD	3	620688	HNRNPC	164020
15q21.3	Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities	AD	3	620330	RFX7	612660
16p13.3	Intellectual developmental disorder, autosomal dominant 72	AD	3	620439	SRRM2	606032
16q22.1	Intellectual developmental disorder, autosomal dominant 21	AD	3	615502	CTCF	604167
16q24.3	Intellectual developmental disorder, autosomal dominant 3	AD	3	612580	CDH15	114019
17p13.1	Intellectual developmental disorder, autosomal dominant 62	AD	3	618793	DLG4	602887
17q21.2	Coffin-Siris syndrome 5	AD	3	616938	SMARCE1	603111
17q21.31	Koolen-De Vries syndrome	AD	3	610443	KANSL1	612452
17q23.1	Intellectual developmental disorder, autosomal dominant 56	AD	3	617854	CLTC	118955
17q23.2	Intellectual developmental disorder, autosomal dominant 61	AD	3	618009	MED13	603808
17q23.2	Intellectual developmental disorder, autosomal dominant 57	AD	3	618050	TLK2	608439
18q12.3	Intellectual developmental disorder, autosomal dominant 29	AD	3	616078	SETBP1	611060
19p13.3	Intellectual developmental disorder, autosomal dominant 65	AD	3	619320	KDM4B	609765
19p13.2	Coffin-Siris syndrome 4	AD	3	614609	SMARCA4	603254
19q13.12	Intellectual developmental disorder, autosomal dominant 68	AD	3	619934	KMT2B	606834
19q13.2	Intellectual developmental disorder, autosomal dominant 45	AD	3	617600	CIC	612082
20q11.23	?Intellectual developmental disorder, autosomal dominant 11	AD	3	614257	EPB41L1	602879
20q13.33	Intellectual developmental disorder, autosomal dominant 73	AD	3	620450	TAF4	601796
20q13.33	Intellectual developmental disorder, autosomal dominant 38	AD	3	616393	EEF1A2	602959
21q22.13	Intellectual developmental disorder, autosomal dominant 7	AD	3	614104	DYRK1A	600855
22q11.23	Coffin-Siris syndrome 3	AD	3	614608	SMARCB1	601607
22q12.3	?Intellectual developmental disorder, autosomal dominant 10	AD	3	614256	CACNG2	602911

Coffin-Siris syndrome - PS135900 - 12 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.11	Coffin-Siris syndrome 2	AD	3	614607	ARID1A	603024
2p25.2	Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism	AD	3	615866	SOX11	600898
6p22.3	Coffin-Siris syndrome 10	AD	3	618506	SOX4	184430
6q25.3	Coffin-Siris syndrome 1	AD	3	135900	ARID1B	614556
11q13.1	Coffin-Siris syndrome 7	AD	3	618027	DPF2	601671
12q12	Coffin-Siris syndrome 6	AD	3	617808	ARID2	609539
12q13.12	Coffin-Siris syndrome 11	AD	3	618779	SMARCD1	601735
12q13.2	Coffin-Siris syndrome 8	AD	3	618362	SMARCC2	601734
17q21.2	Coffin-Siris syndrome 5	AD	3	616938	SMARCE1	603111
19p13.2	Coffin-Siris syndrome 4	AD	3	614609	SMARCA4	603254
19q13.33	Coffin-Siris syndrome 12	AD	3	619325	BICRA	605690
22q11.23	Coffin-Siris syndrome 3	AD	3	614608	SMARCB1	601607

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Coffin-Siris Syndrome ARID1B-Related Disorder Genetic Alliance MedlinePlus Genetics GTR GARD Coffin-siris syndrome 1 Coffin-Siris syndrome OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
SNOMEDCT: 10007009 ORPHA: 1465 DO: 0070042

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* 184430. SRY-BOX 4; SOX4
Cytogenetic location: 6p22.3, Genomic coordinates (GRCh38): 6:21,593,751-21,598,619
Matching terms: 184430
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
6p22.3	Coffin-Siris syndrome 10	618506	AD	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 GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00004771 WBGene00015716 ZFin	Cellular Pathways KEGG Reactome

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* 600898. SRY-BOX 11; SOX11
Cytogenetic location: 2p25.2, Genomic coordinates (GRCh38): 2:5,692,384-5,701,385
Matching terms: 600898
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2p25.2	Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism	615866	AD	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 MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00004771 WBGene00015716 ZFin	Cellular Pathways Reactome

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* 601607. SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY B, MEMBER 1; SMARCB1
Cytogenetic location: 22q11.23, Genomic coordinates (GRCh38): 22:23,786,966-23,838,009
Matching terms: 601607
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
22q11.23	{Rhabdoid tumor predisposition syndrome 1}	609322	AD	3
	{Schwannomatosis-1, susceptibility to}	162091	AD	3
	Coffin-Siris syndrome 3	614608	AD	3
	Rhabdoid tumors, somatic	609322		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 NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 601671. D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 2; DPF2
Cytogenetic location: 11q13.1, Genomic coordinates (GRCh38): 11:65,333,852-65,354,262
Matching terms: 601671
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
11q13.1	Coffin-Siris syndrome 7	618027	AD	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 Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 601734. SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY C, MEMBER 2; SMARCC2
Cytogenetic location: 12q13.2, Genomic coordinates (GRCh38): 12:56,162,359-56,189,483
Matching terms: 601734
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12q13.2	Coffin-Siris syndrome 8	618362	AD	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 Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 603024. AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 1A; ARID1A
Cytogenetic location: 1p36.11, Genomic coordinates (GRCh38): 1:26,696,015-26,782,104
Matching terms: 603024
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1p36.11	Coffin-Siris syndrome 2	614607	AD	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 Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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* 603111. SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY E, MEMBER 1; SMARCE1
Cytogenetic location: 17q21.2, Genomic coordinates (GRCh38): 17:40,624,962-40,647,818
Matching terms: 603111
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
17q21.2	{Meningioma, familial, susceptibility to}	607174	AD	3
17q21.2	Coffin-Siris syndrome 5	616938	AD	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 Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OMIA OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 603254. SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A, MEMBER 4; SMARCA4
Cytogenetic location: 19p13.2, Genomic coordinates (GRCh38): 19:10,961,030-11,062,273
Matching terms: 603254
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19p13.2	?Otosclerosis 12	620792	AD	3
	{Rhabdoid tumor predisposition syndrome 2}	613325	AD	3
	Coffin-Siris syndrome 4	614609	AD	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 NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene WBGene00004106 WBGene00004204 ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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10:

* 609539. AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 2; ARID2
Cytogenetic location: 12q12, Genomic coordinates (GRCh38): 12:45,729,706-45,908,037
Matching terms: 609539
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
12q12	Coffin-Siris syndrome 6	617808	AD	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 GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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« First | ‹ Previous | Next › | Last »

Search: 135900 184430 600898 601607 601671 601734 603024 603111 603254 609539 614556 617808 618027 618362 618506 (Search in: MIM number)

Results: 15 entries.

# 135900. COFFIN-SIRIS SYNDROME 1; CSS1
Cytogenetic location: 6q25.3
Matching terms: 135900

* 184430. SRY-BOX 4; SOX4
Cytogenetic location: 6p22.3, Genomic coordinates (GRCh38): 6:21,593,751-21,598,619
Matching terms: 184430

* 600898. SRY-BOX 11; SOX11
Cytogenetic location: 2p25.2, Genomic coordinates (GRCh38): 2:5,692,384-5,701,385
Matching terms: 600898

* 601671. D4, ZINC, AND DOUBLE PHD FINGERS FAMILY, MEMBER 2; DPF2
Cytogenetic location: 11q13.1, Genomic coordinates (GRCh38): 11:65,333,852-65,354,262
Matching terms: 601671

* 603024. AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 1A; ARID1A
Cytogenetic location: 1p36.11, Genomic coordinates (GRCh38): 1:26,696,015-26,782,104
Matching terms: 603024

10:

* 609539. AT-RICH INTERACTION DOMAIN-CONTAINING PROTEIN 2; ARID2
Cytogenetic location: 12q12, Genomic coordinates (GRCh38): 12:45,729,706-45,908,037
Matching terms: 609539

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