Entry Search - 300017 304120 305620 309350 311300 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '300017 304120 305620 309350 311300 (Search in: MIM number)'
Results: 5 entries.

1:
* 300017. FILAMIN A; FLNA
Cytogenetic location: Xq28, Genomic coordinates (GRCh38): X:154,348,531-154,374,634
Matching terms: 300017
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xq28 ?FG syndrome 2 300321 XL 3
Cardiac valvular dysplasia, X-linked 314400 XL 3
Congenital short bowel syndrome 300048 XLR 3
Frontometaphyseal dysplasia 1 305620 XLR 3
Heterotopia, periventricular, 1 300049 XLD 3
Intestinal pseudoobstruction, neuronal 300048 XLR 3
Melnick-Needles syndrome 309350 XLD 3
Otopalatodigital syndrome, type I 311300 XLD 3
Otopalatodigital syndrome, type II 304120 XLD 3
Terminal osseous dysplasia 300244 XLD 3
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ICD+
SNOMEDCT: 1186709006, 13449007, 42432003, 448227009, 54036001, 784010006
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2:
# 305620. FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1
Cytogenetic location: Xq28
Matching terms: 305620
► 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 Frontometaphyseal dysplasia 1 305620 XLR 3 FLNA 300017
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Frontometaphyseal dysplasia - PS305620 - 2 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
6q15 Frontometaphyseal dysplasia 2 AD 3 617137 MAP3K7 602614
Xq28 Frontometaphyseal dysplasia 1 XLR 3 305620 FLNA 300017
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ICD+
ORPHA: 1826
DO: 0111786
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3:
# 311300. OTOPALATODIGITAL SYNDROME, TYPE I; OPD1
OTOPALATODIGITAL SPECTRUM DISORDER, INCLUDED
Cytogenetic location: Xq28
Matching terms: 311300
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xq28 Otopalatodigital syndrome, type I 311300 XLD 3 FLNA 300017
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ICD+
SNOMEDCT: 54036001
ORPHA: 90650
DO: 0111783
▲ Close

4:
# 304120. OTOPALATODIGITAL SYNDROME, TYPE II; OPD2
Cytogenetic location: Xq28
Matching terms: 304120
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xq28 Otopalatodigital syndrome, type II 304120 XLD 3 FLNA 300017
▲ Close
ICD+
SNOMEDCT: 42432003
ORPHA: 90652
DO: 0111784
▲ Close

5:
# 309350. MELNICK-NEEDLES SYNDROME; MNS
Cytogenetic location: Xq28
Matching terms: 309350
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xq28 Melnick-Needles syndrome 309350 XLD 3 FLNA 300017
▲ Close
ICD+
SNOMEDCT: 13449007
ORPHA: 2484
DO: 0111788
▲ Close
Search: 300017 304120 305620 309350 311300 (Search in: MIM number)
Results: 5 entries.

1:
* 300017. FILAMIN A; FLNA
Cytogenetic location: Xq28, Genomic coordinates (GRCh38): X:154,348,531-154,374,634
Matching terms: 300017

2:
# 305620. FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1
Cytogenetic location: Xq28
Matching terms: 305620

3:
# 311300. OTOPALATODIGITAL SYNDROME, TYPE I; OPD1
OTOPALATODIGITAL SPECTRUM DISORDER, INCLUDED
Cytogenetic location: Xq28
Matching terms: 311300

4:
# 304120. OTOPALATODIGITAL SYNDROME, TYPE II; OPD2
Cytogenetic location: Xq28
Matching terms: 304120

5:
# 309350. MELNICK-NEEDLES SYNDROME; MNS
Cytogenetic location: Xq28
Matching terms: 309350


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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