Entry Search - 300005 300055 300496 300673 312750 - OMIM
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Search: '300005 300055 300496 300673 312750 (Search in: MIM number)'
Results: 5 entries.

1:
* 300005. METHYL-CpG-BINDING PROTEIN 2; MECP2
Cytogenetic location: Xq28, Genomic coordinates (GRCh38): X:154,021,573-154,097,717
Matching terms: 300005
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xq28 {Autism susceptibility, X-linked 3} 300496 XL 3
Encephalopathy, neonatal severe 300673 XLR 3
Intellectual developmental disorder, X-linked syndromic 13 300055 XLR 3
Intellectual developmental disorder, X-linked syndromic, Lubs type 300260 XLR 3
Rett syndrome 312750 XLD 3
Rett syndrome, atypical 312750 XLD 3
Rett syndrome, preserved speech variant 312750 XLD 3
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ICD+
SNOMEDCT: 68618008, 702356009, 702816000, 718393002, 771303004
ICD10CM: F84.2
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2:
# 300055. INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; MRXS13
Cytogenetic location: Xq28
Matching terms: 300055
► 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 Intellectual developmental disorder, X-linked syndromic 13 300055 XLR 3 MECP2 300005
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Intellectual developmental disorder, X-linked syndromic - PS309510 - 56 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
Xp22.2 Raynaud-Claes syndrome XLD 3 300114 CLCN4 302910
Xp22.2 Basilicata-Akhtar syndrome XLD 3 301032 MSL3 300609
Xp22.2 Intellectual developmental disorder, X-linked syndromic, Pilorge type XL 3 301076 GLRA2 305990
Xp22.2 Pettigrew syndrome XLR 3 304340 AP1S2 300629
Xp22.12 Intellectual developmental disorder, X-linked syndromic, Houge type XL 3 301008 CNKSR2 300724
Xp22.11 Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type XLR 3 309583 SMS 300105
Xp22.11 MEHMO syndrome XLR 3 300148 EIF2S3 300161
Xp22.11 Intellectual developmental disorder, X-linked syndromic 37 XL 3 301118 ZFX 314980
Xp22.11-p21.3 Van Esch-O'Driscoll syndrome XLR 3 301030 POLA1 312040
Xp21.3 Partington syndrome XLR 3 309510 ARX 300382
Xp21.1-p11.23 Intellectual developmental disorder, X-linked syndromic 17 XLR 2 300858 MRXS17 300858
Xp11 ?Intellectual developmental disorder, X-linked syndromic 12 XL 2 309545 MRXS12 309545
Xp11.4 Intellectual developmental disorder, X-linked syndromic, Hedera type XLR 3 300423 ATP6AP2 300556
Xp11.4 Intellectual developmental disorder, X-linked syndromic, Snijders Blok type XLD, XLR 3 300958 DDX3X 300160
Xp11.4 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia XL 3 300749 CASK 300172
Xp11.3-q22 Intellectual developmental disorder, X-linked syndromic 7 XL 2 300218 MRXS7 300218
Xp11.2 Intellectual developmental disorder, X-linked, syndromic, Stocco dos Santos type XL 2 300434 SDSX 300434
Xp11.23 Renpenning syndrome XLR 3 309500 PQBP1 300463
Xp11.22 Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type XLR 3 300534 KDM5C 314690
Xp11.22 Intellectual developmental disorder, X-linked syndromic, Turner type XL 3 309590 HUWE1 300697
Xp11.22 Intellectual developmental disorder, X-linked syndromic, Siderius type XLR 3 300263 PHF8 300560
Xp11.22 Prieto syndrome XLR 3 309610 WNK3 300358
Xp11.22 Aarskog-Scott syndrome XLR 3 305400 FGD1 300546
Xp11.22 Intellectual developmental disorder, X-linked syndromic 16 XLR 3 305400 FGD1 300546
Xq11.2 Wieacker-Wolff syndrome XLR 3 314580 ZC4H2 300897
Xq12-q21.31 Intellectual developmental disorder, X-linked syndromic 9 2 300709 MRXS9 300709
Xq12 Wilson-Turner syndrome XLR 3 309585 LAS1L 300964
Xq12 Intellectual developmental disorder, X-linked syndromic, Billuart type XLR 3 300486 OPHN1 300127
Xq13-q21 Martin-Probst syndrome XLR 2 300519 MRXSMP 300519
Xq13.1 ?Corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma and micrognathia XLR 3 300472 IGBP1 300139
Xq13.1 Lujan-Fryns syndrome XLR 3 309520 MED12 300188
Xq13.1 Intellectual developmental disorder, X-linked syndromic 34 XL 3 300967 NONO 300084
Xq13.1 Intellectual developmental disorder, X-linked syndromic 33 XLR 3 300966 TAF1 313650
Xq13.2 Intellectual developmental disorder, X-linked syndromic, Abidi type XL 2 300262 MRXSAB 300262
Xq13.2 Tonne-Kalscheuer syndrome XL 3 300978 RLIM 300379
Xq21.33-q23 Intellectual developmental disorder, X-linked syndromic, Chudley-Schwartz type XLR 2 300861 MRXSCS 300861
Xq22.1 Intellectual developmental disorder, X-linked syndromic, Bain type XLD 3 300986 HNRNPH2 300610
Xq22.3 Arts syndrome XLR 3 301835 PRPS1 311850
Xq24 Intellectual developmental disorder, X-linked syndromic, Nascimento type XLR 3 300860 UBE2A 312180
Xq24 Intellectual developmental disorder, X-linked syndromic 14 XLR 3 300676 UPF3B 300298
Xq24 Intellectual developmental disorder, X-linked syndromic, Hackman-Di Donato type XLR 3 301039 NKAP 300766
Xq24 Intellectual developmental disorder, X-linked syndromic, Cabezas type XLR 3 300354 CUL4B 300304
Xq25 Intellectual developmental disorder, X-linked syndromic, Wu type XLR 3 300699 GRIA3 305915
Xq26.1 Intellectual developmental disorder, X-linked syndromic, Raymond type XL 3 300799 ZDHHC9 300646
Xq26.2 ?Paganini-Miozzo syndrome XLR 3 301025 HS6ST2 300545
Xq26.2 Borjeson-Forssman-Lehmann syndrome XLR 3 301900 PHF6 300414
Xq26.3 Intellectual developmental disorder, X-linked syndromic, Christianson type XL 3 300243 SLC9A6 300231
Xq26.3 ?Intellectual developmental disorder, X-linked syndromic, Shashi type XLR 3 300238 RBMX 300199
Xq26.3 ?Intellectual developmental disorder, X-linked syndromic, Gustavson type XLR 3 309555 RBMX 300199
Xq27.3 Fragile X syndrome XLD 3 300624 FMR1 309550
Xq28 Intellectual developmental disorder, X-linked 109 XLR 3 309548 AFF2 300806
Xq28 Intellectual developmental disorder, X-linked syndromic, Lubs type XLR 3 300260 MECP2 300005
Xq28 Intellectual developmental disorder, X-linked syndromic 13 XLR 3 300055 MECP2 300005
Xq28 Intellectual developmental disorder, X-linked syndromic 35 XLR 3 300998 RPL10 312173
Xq28 Intellectual developmental disorder, X-linked syndromic, Armfield type XLR 3 300261 FAM50A 300453
Chr.X Intellectual developmental disorder, X-linked, syndromic 32 XLR 2 300886 MRXS32 300886
▲ Close
ICD+
SNOMEDCT: 702356009
ORPHA: 3077
DO: 0060827
▲ Close

3:
# 300496. AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3
Cytogenetic location: Xq28
Matching terms: 300496
► Phenotype-Gene Relationships  ► Phenotypic Series  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xq28 {Autism susceptibility, X-linked 3} 300496 XL 3 MECP2 300005
▲ Close
Autism, susceptiblity to - PS209850 - 27 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
1q41-q42 {Autism susceptibility 11} 2 610836 AUTS11 610836
2q24.2 Intellectual developmental disorder with autism and speech delay AD 3 606053 TBR1 604616
3q24 {?Autism susceptibility 16} 3 613410 SLC9A9 608396
3q25-q27 {Autism susceptibility 8} IC, Mu 2 607373 AUTS8 607373
3q26.31 {Autism, susceptibility to, 20} AD 3 618830 NLGN1 600568
4q23 {Autism, susceptibility to, 19} 3 615091 EIF4E 133440
7q22 {Autism susceptibility 1} IC, Mu 2 209850 AUTS1 209850
7q31 {Autism, susceptibility to, 9} 2 611015 AUTS9 611015
7q35-q36.1 {Autism susceptibility 15} 3 612100 CNTNAP2 604569
7q36 {Autism, susceptibility to, 10} 2 611016 AUTS10 611016
11q13.3-q13.4 {Autism susceptibility 17} 3 613436 SHANK2 603290
12q14.2 {Autism susceptibility 13} 2 610908 AUTS13 610908
13q13.2-q14.1 {Autism susceptibility 3} IC, Mu 2 608049 AUTS3 608049
14q11.2 Intellectual developmental disorder with autism and macrocephaly AD 3 615032 CHD8 610528
15q11 {Autism susceptibility 4} AD 2 608636 AUTS4 608636
16p11.2 Chromosome 16p11.2 deletion syndrome, 593kb 4 611913 DEL16p11.2 611913
16p11.2 {Autism susceptibility 14A} 2 611913 DEL16p11.2 611913
17q11 {Autism susceptibility 6} 2 609378 AUTS6 609378
17q21 {Autism susceptibility 7} 2 610676 AUTS7 610676
21p13-q11 {Autism susceptibility 12} 2 610838 AUTS12 610838
Xp22.32-p22.31 {Autism susceptibility, X-linked 2} XL 3 300495 NLGN4X 300427
Xp22.32-p22.31 Intellectual developmental disorder, X-linked XL 3 300495 NLGN4X 300427
Xp22.11 {Autism, susceptibility to, X-linked 4} XLR 3 300830 PTCHD1 300828
Xq13.1 {Autism susceptibility, X-linked 1} XL 3 300425 NLGN3 300336
Xq28 {Autism susceptibility, X-linked 3} XL 3 300496 MECP2 300005
Xq28 {Autism, susceptibility to, X-linked 5} 3 300847 RPL10 312173
Xq28 {Autism, susceptibility to, X-linked 6} XLR 3 300872 TMLHE 300777
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Links
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Animal Models
NCBI HomoloGene
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4:
# 300673. ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
Cytogenetic location: Xq28
Matching terms: 300673
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xq28 Encephalopathy, neonatal severe 300673 XLR 3 MECP2 300005
▲ Close
ICD+
SNOMEDCT: 771303004
ORPHA: 209370
DO: 0111932
▲ Close

5:
# 312750. RETT SYNDROME; RTT
RETT SYNDROME, ZAPPELLA VARIANT, INCLUDED
Cytogenetic locations: Xq28,
Matching terms: 312750
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xq28 Rett syndrome, preserved speech variant 312750 XLD 3 MECP2 300005
Xq28 Rett syndrome 312750 XLD 3 MECP2 300005
Xq28 Rett syndrome, atypical 312750 XLD 3 MECP2 300005
▲ Close
ICD+
SNOMEDCT: 68618008
ICD10CM: F84.2
ORPHA: 3095, 778
DO: 1206
▲ Close
Search: 300005 300055 300496 300673 312750 (Search in: MIM number)
Results: 5 entries.

1:
* 300005. METHYL-CpG-BINDING PROTEIN 2; MECP2
Cytogenetic location: Xq28, Genomic coordinates (GRCh38): X:154,021,573-154,097,717
Matching terms: 300005

2:
# 300055. INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; MRXS13
Cytogenetic location: Xq28
Matching terms: 300055

3:
# 300496. AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3
Cytogenetic location: Xq28
Matching terms: 300496

4:
# 300673. ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
Cytogenetic location: Xq28
Matching terms: 300673

5:
# 312750. RETT SYNDROME; RTT
RETT SYNDROME, ZAPPELLA VARIANT, INCLUDED
Cytogenetic locations: Xq28,
Matching terms: 312750


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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 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® 1966-2024 Johns Hopkins University.
Printed: May 27, 2024