Entry Search - 194190 602618 602952 604407 605032 605830 606026

Search: '194190 602618 602952 604407 605032 605830 606026 (Search in: MIM number)'

Results: 7 entries.

* 604407. LEUCINE ZIPPER/EF-HAND-CONTAINING TRANSMEMBRANE PROTEIN 1; LETM1
Cytogenetic location: 4p16.3, Genomic coordinates (GRCh38): 4:1,811,479-1,856,156
Matching terms: 604407
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
4p16.3	Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction	620089	AR	3

▲ Close

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 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 Reactome

▲ Close

* 605032. COMPLEXIN 1; CPLX1
Cytogenetic location: 4p16.3, Genomic coordinates (GRCh38): 4:784,957-826,129
Matching terms: 605032
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
4p16.3	Developmental and epileptic encephalopathy 63	617976	AR	3

▲ Close

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 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

▲ Close

# 194190. WOLF-HIRSCHHORN SYNDROME; WHS
Cytogenetic location: 4p16.3, Genomic coordinates (GRCh38): 4:1-4,500,000
Matching terms: 194190
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
4p16.3	Wolf-Hirschhorn syndrome	194190	IC	4

▲ Close

Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials DECIPHER EuroGentest Genetic Alliance MedlinePlus Genetics GTR OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype	Cell Lines Coriell

▲ Close

ICD+
SNOMEDCT: 17122004, 718226002 ICD10CM: Q93.3 ORPHA: 280 DO: 0050460

▲ Close

* 602618. C-TERMINAL-BINDING PROTEIN 1; CTBP1
Cytogenetic location: 4p16.3, Genomic coordinates (GRCh38): 4:1,211,445-1,250,355
Matching terms: 602618
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
4p16.3	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	617915	AD	3

▲ Close

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 Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

▲ Close

* 602952. NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 2; NSD2
Cytogenetic location: 4p16.3, Genomic coordinates (GRCh38): 4:1,871,393-1,982,192
Matching terms: 602952
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
4p16.3	Rauch-Steindl syndrome	619695	AD	3

▲ Close

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

▲ Close

* 606026. NEGATIVE ELONGATION FACTOR COMPLEX, MEMBER A; NELFA
Cytogenetic location: 4p16.3, Genomic coordinates (GRCh38): 4:1,982,723-2,008,974
Matching terms: 606026
► Links

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 NCBI Gene UCSC	Clinical Resources ClinGen Dosage GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways KEGG Reactome

▲ Close

* 605830. FIBROBLAST GROWTH FACTOR RECEPTOR-LIKE 1; FGFRL1
Cytogenetic location: 4p16.3, Genomic coordinates (GRCh38): 4:1,010,212-1,026,898
Matching terms: 605830
► Links

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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

▲ Close

Search: 194190 602618 602952 604407 605032 605830 606026 (Search in: MIM number)

Results: 7 entries.

* 604407. LEUCINE ZIPPER/EF-HAND-CONTAINING TRANSMEMBRANE PROTEIN 1; LETM1
Cytogenetic location: 4p16.3, Genomic coordinates (GRCh38): 4:1,811,479-1,856,156
Matching terms: 604407

* 605032. COMPLEXIN 1; CPLX1
Cytogenetic location: 4p16.3, Genomic coordinates (GRCh38): 4:784,957-826,129
Matching terms: 605032

# 194190. WOLF-HIRSCHHORN SYNDROME; WHS
Cytogenetic location: 4p16.3, Genomic coordinates (GRCh38): 4:1-4,500,000
Matching terms: 194190

* 602618. C-TERMINAL-BINDING PROTEIN 1; CTBP1
Cytogenetic location: 4p16.3, Genomic coordinates (GRCh38): 4:1,211,445-1,250,355
Matching terms: 602618

* 602952. NUCLEAR RECEPTOR-BINDING SET DOMAIN PROTEIN 2; NSD2
Cytogenetic location: 4p16.3, Genomic coordinates (GRCh38): 4:1,871,393-1,982,192
Matching terms: 602952

* 606026. NEGATIVE ELONGATION FACTOR COMPLEX, MEMBER A; NELFA
Cytogenetic location: 4p16.3, Genomic coordinates (GRCh38): 4:1,982,723-2,008,974
Matching terms: 606026

* 605830. FIBROBLAST GROWTH FACTOR RECEPTOR-LIKE 1; FGFRL1
Cytogenetic location: 4p16.3, Genomic coordinates (GRCh38): 4:1,010,212-1,026,898
Matching terms: 605830

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM^® and Online Mendelian Inheritance in Man^® are registered trademarks of the Johns Hopkins University.
Copyright^® 1966-2025 Johns Hopkins University.
Printed: March 15, 2025