Entry Search - 300017 300048 300049 314400 - OMIM
View Results as: Gene Map Table   Clinical Synopsis  

Search: '300017 300048 300049 314400 (Search in: MIM number)'
Results: 4 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
▲ Close
ICD+
SNOMEDCT: 1186709006, 13449007, 42432003, 448227009, 54036001, 784010006
▲ Close

2:
# 300048. INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED; CIIPX
CONGENITAL SHORT BOWEL SYNDROME, X-LINKED, INCLUDED
Cytogenetic locations: Xq28,
Matching terms: 300048
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xq28 Congenital short bowel syndrome 300048 XLR 3 FLNA 300017
Xq28 Intestinal pseudoobstruction, neuronal 300048 XLR 3 FLNA 300017
▲ Close
ICD+
ORPHA: 2301, 2978
DO: 0080681
▲ Close

3:
# 300049. PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1
HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA, INCLUDED
Cytogenetic location: Xq28
Matching terms: 300049
► 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 Heterotopia, periventricular, 1 300049 XLD 3 FLNA 300017
▲ Close
ICD+
SNOMEDCT: 448227009
ORPHA: 2149, 98892
DO: 0050454
▲ Close

4:
# 314400. CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVDPX
Cytogenetic location: Xq28
Matching terms: 314400
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xq28 Cardiac valvular dysplasia, X-linked 314400 XL 3 FLNA 300017
▲ Close
ICD+
SNOMEDCT: 1186709006
ORPHA: 555877, 75497
DO: 0111765
▲ Close
Search: 300017 300048 300049 314400 (Search in: MIM number)
Results: 4 entries.

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

2:
# 300048. INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED; CIIPX
CONGENITAL SHORT BOWEL SYNDROME, X-LINKED, INCLUDED
Cytogenetic locations: Xq28,
Matching terms: 300048

3:
# 300049. PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1
HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA, INCLUDED
Cytogenetic location: Xq28
Matching terms: 300049

4:
# 314400. CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVDPX
Cytogenetic location: Xq28
Matching terms: 314400


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.

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