Entry Search - 300075 300844 303600 - OMIM
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Search: '300075 300844 303600 (Search in: MIM number)'
Results: 3 entries.

1:
* 300075. RIBOSOMAL PROTEIN S6 KINASE A3; RPS6KA3
Cytogenetic location: Xp22.12, Genomic coordinates (GRCh38): X:20,149,911-20,267,097
Matching terms: 300075
► Gene-Phenotype Relationships  ► ICD+  ► Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key
Xp22.12 Coffin-Lowry syndrome 303600 XLD 3
Intellectual developmental disorder, X-linked 19 300844 XLD 3
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ICD+
SNOMEDCT: 15182000
▲ Close

2:
# 300844. INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19; XLID19
Cytogenetic location: Xp22.12
Matching terms: 300844
► 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
Xp22.12 Intellectual developmental disorder, X-linked 19 300844 XLD 3 RPS6KA3 300075
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Intellectual developmental disorder, nonsyndromic, X-linked - PS309530 - 55 Entries
Location Phenotype Inheritance Phenotype
mapping key 		Phenotype
MIM number 		Gene/Locus Gene/Locus
MIM number
Xp22.3 Intellectual developmental disorder, X-linked 2 XL 2 300428 XLID2 300428
Xp22.2 Intellectual developmental disorder, X-linked 73 XLR 2 300355 XLID73 300355
Xp22.2 Intellectual developmental disorder, X-linked 104 XL 3 300983 FRMPD4 300838
Xp22.12 Intellectual developmental disorder, X-linked 19 XLD 3 300844 RPS6KA3 300075
Xp22.11 Intellectual developmental disorder, X-linked 103 XLR 3 300982 KLHL15 300980
Xp21.3 Intellectual developmental disorder, X-linked 29 XLR 3 300419 ARX 300382
Xp21.3-p21.2 Intellectual developmental disorder, X-linked 21 XLR 3 300143 IL1RAPL1 300206
Xp11-q21 Intellectual developmental disorder, X-linked 20 XL 2 300047 XLID20 300047
Xp11.4 Intellectual developmental disorder, X-linked 58 XLR 3 300210 TSPAN7 300096
Xp11.4 Intellectual developmental disorder, X-linked 99, syndromic, female-restricted XLD 3 300968 USP9X 300072
Xp11.4 Intellectual developmental disorder, X-linked 99 XLR 3 300919 USP9X 300072
Xp11.3-q13.3 Intellectual developmental disorder, X-linked 14 XL 2 300062 XLID14 300062
Xp11.3-p11.21 Intellectual developmental disorder, X-linked 45 XL 2 300498 XLID45 300498
Xp11.3-q22.3 Intellectual developmental disorder, X-linked 84 XLR 2 300505 XLID84 300505
Xp11.3 Intellectual developmental disorder, X-linked 89 XLD 2 300848 XLID89 300848
Xp11.3 Intellectual developmental disorder, X-linked 92 XLR 2 300851 XLID92 300851
Xp11.3 Intellectual developmental disorder, X-linked 108 XLR 3 301024 SLC9A7 300368
Xp11.3-p11.23 Intellectual developmental disorder, X-linked 50 XL 3 300115 SYN1 313440
Xp11.2-q12 Intellectual developmental disorder, X-linked 81 XLR 2 300433 XLID81 300433
Xp11.23 Intellectual developmental disorder, X-linked 9 XLR 3 309549 FTSJ1 300499
Xp11.23 Intellectual developmental disorder, X-linked 96 XLR 3 300802 SYP 313475
Xp11.23 Intellectual developmental disorder, X-linked 105 XLR 3 300984 USP27X 300975
Xp11.22 Xp11.22 microduplication syndrome 4 300705 DUPXp11.22 300705
Xp11.22 Intellectual developmental disorder, X-linked 1 XLD 3 309530 IQSEC2 300522
Xq12-q21.3 Intellectual developmental disorder, X-linked 77 XLR 2 300454 XLID77 300454
Xq13.1 Intellectual developmental disorder, X-linked 100 XLR 3 300923 KIF4A 300521
Xq13.1 Intellectual developmental disorder, X-linked 90 XLR 3 300850 DLG3 300189
Xq13.1 Intellectual developmental disorder, X-linked 112 XLR 3 301111 ZMYM3 300061
Xq13.1 Intellectual developmental disorder, X-linked 106 XLR 3 300997 OGT 300255
Xq13.2 Tonne-Kalscheuer syndrome XL 3 300978 RLIM 300379
Xq13.3 Intellectual developmental disorder, X-linked 91 XLD 4 300577 XLID91 300577
Xq13.3 Intellectual developmental disorder, X-linked 98 XLD 3 300912 NEXMIF 300524
Xq21.1 Intellectual developmental disorder, X-linked 93 XLR 3 300659 BRWD3 300553
Xq21.1 Intellectual developmental disorder, X-linked 97 XL 3 300803 ZNF711 314990
Xq22.1 ?Intellectual developmental disorder, X-linked 113 XLR 3 301116 CSTF2 300907
Xq22.2-q26 Intellectual developmental disorder, X-linked 53 XLR 2 300324 XLID53 300324
Xq22.3 ?Intellectual developmental disorder, X-linked 101 XLR 3 300928 MID2 300204
Xq23-q24 Intellectual developmental disorder, X-linked 23 XL 2 300046 XLID23 300046
Xq23 Intellectual developmental disorder, X-linked 63 XLD 3 300387 ACSL4 300157
Xq23 Intellectual developmental disorder, X-linked 30 XLR 3 300558 PAK3 300142
Xq24-q25 Intellectual developmental disorder, X-linked 82 XLR 2 300518 XLID82 300518
Xq24 Intellectual developmental disorder, X-linked 88 XL 2 300852 XLID88 300852
Xq24 ?Intellectual developmental disorder, X-linked 107 XL 3 301013 STEEP1 301012
Xq25-q26 Intellectual developmental disorder, X-linked 46 XLR 2 300436 XLID46 300436
Xq25 Intellectual developmental disorder, X-linked syndromic, Wu type XLR 3 300699 GRIA3 305915
Xq25 Intellectual developmental disorder, X-linked syndromic, Kumar type XL 3 300957 THOC2 300395
Xq26 Intellectual developmental disorder, X-linked 42 2 300372 XLID42 300372
Xq26.3-q27.1 Intellectual developmental disorder, X-linked 110 XLR 3 301095 FGF13 300070
Xq27.3 Intellectual developmental disorder, X-linked 111 XL 3 301107 SLITRK2 300561
Xq28 Intellectual developmental disorder, X-linked 109 XLR 3 309548 AFF2 300806
Xq28 Intellectual developmental disorder, X-linked 114 XL 3 301134 SRPK3 301002
Xq28 Methylmalonic aciduria and homocysteinemia, cblX type XLR 3 309541 HCFC1 300019
Xq28 Intellectual developmental disorder, X-linked 41 XLD 3 300849 GDI1 300104
Xq28 Intellectual developmental disorder, X-linked 72 XLR 3 300271 RAB39B 300774
Chr.X Intellectual developmental disorder, X-linked 95 XLD 2 300716 XLID95 300716
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ICD+
ORPHA: 276630, 777
DO: 0112019
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3:
# 303600. COFFIN-LOWRY SYNDROME; CLS
Cytogenetic location: Xp22.12
Matching terms: 303600
► Phenotype-Gene Relationships  ► ICD+  ► Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number 		Inheritance Phenotype
mapping key 		Gene/Locus Gene/Locus
MIM number
Xp22.12 Coffin-Lowry syndrome 303600 XLD 3 RPS6KA3 300075
▲ Close
ICD+
SNOMEDCT: 15182000
ORPHA: 192
DO: 3783
▲ Close
Search: 300075 300844 303600 (Search in: MIM number)
Results: 3 entries.

1:
* 300075. RIBOSOMAL PROTEIN S6 KINASE A3; RPS6KA3
Cytogenetic location: Xp22.12, Genomic coordinates (GRCh38): X:20,149,911-20,267,097
Matching terms: 300075

2:
# 300844. INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 19; XLID19
Cytogenetic location: Xp22.12
Matching terms: 300844

3:
# 303600. COFFIN-LOWRY SYNDROME; CLS
Cytogenetic location: Xp22.12
Matching terms: 303600


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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