Entry Search - 300056 300403 300885 300887 300952 309801

Search: '300056 300403 300885 300887 300952 309801 (Search in: MIM number)'

Results: 6 entries.

# 309801. LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1; LSDMCA1
Cytogenetic location: Xp22.2
Matching terms: 309801
► 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
Xp22.2	Linear skin defects with multiple congenital anomalies 1	309801	XLD	3	HCCS	300056

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Microphthalmia, syndromic - PS309800 - 18 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3p24.2	Microphthalmia, syndromic 12	AD, AR	3	615524	RARB	180220
3q26.33	Microphthalmia, syndromic 3	AD	3	206900	SOX2	184429
3q26.33	Optic nerve hypoplasia and abnormalities of the central nervous system	AD	3	206900	SOX2	184429
4q31.3	Microphthalmia/coloboma and skeletal dysplasia syndrome	AD, AR	3	615877	MAB21L2	604357
4q34.3-q35.1	?Microphthalmia/coloboma 9	AR	3	615145	TENM3	610083
4q34.3-q35.1	Microphthalmia, syndromic 15	AR	3	615145	TENM3	610083
6q21	Microphthalmia, syndromic 8	?AD	2	601349	MCOPS8	601349
10q25.3	?Microphthalmia, syndromic 11	AR	3	614402	VAX1	604294
14q22.2	Microphthalmia, syndromic 6	AD	3	607932	BMP4	112262
14q22.3	Microphthalmia, syndromic 5	AD	3	610125	OTX2	600037
14q22.3	Retinal dystrophy, early-onset, with or without pituitary dysfunction	AD	3	610125	OTX2	600037
15q24.1	Microphthalmia, isolated, with coloboma 8	AR	3	601186	STRA6	610745
15q24.1	Microphthalmia, syndromic 9	AR	3	601186	STRA6	610745
Xp22.2	Linear skin defects with multiple congenital anomalies 1	XLD	3	309801	HCCS	300056
Xp11.4	Microphthalmia, syndromic 2	XLD	3	300166	BCOR	300485
Xq28	?Microphthalmia, syndromic 13	XL	3	300915	HMGB3	300193
Xq28	Microphthalmia, syndromic 1	XL	3	309800	NAA10	300013
Not Mapped	Microphthalmia, syndromic 10			611222	MCOPS10	611222

Linear skin defects with multiple congenital anomalies - PS309801 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
Xp22.2	Linear skin defects with multiple congenital anomalies 1	XLD	3	309801	HCCS	300056
Xp11.3	Linear skin defects with multiple congenital anomalies 3	XLD	3	300952	NDUFB11	300403
Xq21.1	Linear skin defects with multiple congenital anomalies 2	XLD	3	300887	COX7B	300885

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 721879006 ORPHA: 2556 DO: 0111808

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* 300056. HOLOCYTOCHROME C SYNTHASE; HCCS
Cytogenetic location: Xp22.2, Genomic coordinates (GRCh38): X:11,111,332-11,123,086
Matching terms: 300056
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xp22.2	Linear skin defects with multiple congenital anomalies 1	309801	XLD	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 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	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 721879006

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* 300403. NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 11; NDUFB11
Cytogenetic location: Xp11.3, Genomic coordinates (GRCh38): X:47,142,216-47,145,491
Matching terms: 300403
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xp11.3	?Mitochondrial complex I deficiency, nuclear type 30	301021	XL	3
Xp11.3	Linear skin defects with multiple congenital anomalies 3	300952	XLD	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 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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* 300885. CYTOCHROME c OXIDASE, SUBUNIT 7B; COX7B
Cytogenetic location: Xq21.1, Genomic coordinates (GRCh38): X:77,899,468-77,907,376
Matching terms: 300885
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
Xq21.1	Linear skin defects with multiple congenital anomalies 2	300887	XLD	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 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 Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB	Cellular Pathways KEGG Reactome

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# 300887. LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2
Cytogenetic location: Xq21.1
Matching terms: 300887
► 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
Xq21.1	Linear skin defects with multiple congenital anomalies 2	300887	XLD	3	COX7B	300885

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Linear skin defects with multiple congenital anomalies - PS309801 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
Xp22.2	Linear skin defects with multiple congenital anomalies 1	XLD	3	309801	HCCS	300056
Xp11.3	Linear skin defects with multiple congenital anomalies 3	XLD	3	300952	NDUFB11	300403
Xq21.1	Linear skin defects with multiple congenital anomalies 2	XLD	3	300887	COX7B	300885

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 2556 DO: 0111877

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# 300952. LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3
Cytogenetic location: Xp11.3
Matching terms: 300952
► 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
Xp11.3	Linear skin defects with multiple congenital anomalies 3	300952	XLD	3	NDUFB11	300403

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Linear skin defects with multiple congenital anomalies - PS309801 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
Xp22.2	Linear skin defects with multiple congenital anomalies 1	XLD	3	309801	HCCS	300056
Xp11.3	Linear skin defects with multiple congenital anomalies 3	XLD	3	300952	NDUFB11	300403
Xq21.1	Linear skin defects with multiple congenital anomalies 2	XLD	3	300887	COX7B	300885

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 2556 DO: 0111876

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Search: 300056 300403 300885 300887 300952 309801 (Search in: MIM number)

Results: 6 entries.

# 309801. LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1; LSDMCA1
Cytogenetic location: Xp22.2
Matching terms: 309801

* 300056. HOLOCYTOCHROME C SYNTHASE; HCCS
Cytogenetic location: Xp22.2, Genomic coordinates (GRCh38): X:11,111,332-11,123,086
Matching terms: 300056

* 300403. NADH-UBIQUINONE OXIDOREDUCTASE 1 BETA SUBCOMPLEX, 11; NDUFB11
Cytogenetic location: Xp11.3, Genomic coordinates (GRCh38): X:47,142,216-47,145,491
Matching terms: 300403

* 300885. CYTOCHROME c OXIDASE, SUBUNIT 7B; COX7B
Cytogenetic location: Xq21.1, Genomic coordinates (GRCh38): X:77,899,468-77,907,376
Matching terms: 300885

# 300887. LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2
Cytogenetic location: Xq21.1
Matching terms: 300887

# 300952. LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3
Cytogenetic location: Xp11.3
Matching terms: 300952

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