Entry Search - 150330 181350 300163 300384 300696 310300 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '150330 181350 300163 300384 300696 310300 (Search in: MIM number)'
Results: 6 entries.

1:
# 310300. EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1
Cytogenetic location: Xq28
Matching terms: 310300
► 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
Xq28 Emery-Dreifuss muscular dystrophy 1, X-linked 310300 XLR 3 EMD 300384
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ICD+
ORPHA: 261, 98863
DO: 0070246
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2:
* 300163. FOUR-AND-A-HALF LIM DOMAINS 1; FHL1
FHL1B, INCLUDED
Cytogenetic location: Xq26.3, Genomic coordinates (GRCh38): X:136,146,702-136,211,359
Matching terms: 300163
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xq26.3 ?Uruguay faciocardiomusculoskeletal syndrome 300280 XLR 3
Emery-Dreifuss muscular dystrophy 6, X-linked 300696 XLR 3
Myopathy, X-linked, with postural muscle atrophy 300696 XLR 3
Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset 300717 XLD 3
Reducing body myopathy, X-linked 1b, with late childhood or adult onset 300718 XL 3
Scapuloperoneal myopathy, X-linked dominant 300695 XLD 3
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ICD+
SNOMEDCT: 773729007
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3:
* 300384. EMERIN; EMD
Cytogenetic location: Xq28, Genomic coordinates (GRCh38): X:154,379,295-154,381,523
Matching terms: 300384
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xq28 Emery-Dreifuss muscular dystrophy 1, X-linked 310300 XLR 3
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ICD+
SNOMEDCT: 1156836006
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4:
# 300696. MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA
EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED, INCLUDED; EDMD6, INCLUDED
Cytogenetic locations: Xq26.3,
Matching terms: 300696
► 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
Xq26.3 Emery-Dreifuss muscular dystrophy 6, X-linked 300696 XLR 3 FHL1 300163
Xq26.3 Myopathy, X-linked, with postural muscle atrophy 300696 XLR 3 FHL1 300163
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ICD+
SNOMEDCT: 773729007
ORPHA: 178461, 261, 98863
DO: 0070251
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5:
* 150330. LAMIN A/C; LMNA
LAMIN A, INCLUDED
Cytogenetic location: 1q22, Genomic coordinates (GRCh38): 1:156,082,573-156,140,081
Matching terms: 150330
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
1q22 Cardiomyopathy, dilated, 1A 115200 AD 3
Charcot-Marie-Tooth disease, type 2B1 605588 AR 3
Emery-Dreifuss muscular dystrophy 2, autosomal dominant 181350 AD 3
Emery-Dreifuss muscular dystrophy 3, autosomal recessive 616516 AR 3
Heart-hand syndrome, Slovenian type 610140 AD 3
Hutchinson-Gilford progeria 176670 AD 3
Lipodystrophy, familial partial, type 2 151660 AD 3
Malouf syndrome 212112 AD 3
Mandibuloacral dysplasia 248370 AR 3
Muscular dystrophy, congenital 613205 AD 3
Restrictive dermopathy 2 619793 AD 3
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ICD+
SNOMEDCT: 1003431005, 1010712009, 238870004, 53043001, 715439000, 719451006, 721014007, 725048002, 771272007
ICD10CM: E34.8
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6:
# 181350. EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2
Cytogenetic location: 1q22
Matching terms: 181350
► 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
1q22 Emery-Dreifuss muscular dystrophy 2, autosomal dominant 181350 AD 3 LMNA 150330
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ICD+
SNOMEDCT: 1010712009
ORPHA: 261, 98853
DO: 0070247
▲ Close
Search: 150330 181350 300163 300384 300696 310300 (Search in: MIM number)
Results: 6 entries.

1:
# 310300. EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1
Cytogenetic location: Xq28
Matching terms: 310300

2:
* 300163. FOUR-AND-A-HALF LIM DOMAINS 1; FHL1
FHL1B, INCLUDED
Cytogenetic location: Xq26.3, Genomic coordinates (GRCh38): X:136,146,702-136,211,359
Matching terms: 300163

3:
* 300384. EMERIN; EMD
Cytogenetic location: Xq28, Genomic coordinates (GRCh38): X:154,379,295-154,381,523
Matching terms: 300384

4:
# 300696. MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY; XMPMA
EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED, INCLUDED; EDMD6, INCLUDED
Cytogenetic locations: Xq26.3,
Matching terms: 300696

5:
* 150330. LAMIN A/C; LMNA
LAMIN A, INCLUDED
Cytogenetic location: 1q22, Genomic coordinates (GRCh38): 1:156,082,573-156,140,081
Matching terms: 150330

6:
# 181350. EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT; EDMD2
Cytogenetic location: 1q22
Matching terms: 181350


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 Johns Hopkins University.

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 5, 2025