Entry Search - 300032 301040 309580 - OMIM
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Search: '300032 301040 309580 (Search in: MIM number)'
Results: 3 entries.

1:
* 300032. ATRX CHROMATIN REMODELER; ATRX
Cytogenetic location: Xq21.1, Genomic coordinates (GRCh38): X:77,504,880-77,786,216
Matching terms: 300032
 Gene-Phenotype Relationships   ICD+   Links 
Gene-Phenotype Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Xq21.1 Alpha-thalassemia myelodysplasia syndrome, somatic 300448 3
Alpha-thalassemia/impaired intellectual development syndrome 301040 XLD 3
Intellectual disability-hypotonic facies syndrome, X-linked 309580 XLR 3
ICD+
SNOMEDCT: 715342005

2:
# 301040. ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED; ATRX
Cytogenetic location: Xq21.1
Matching terms: 301040
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
Xq21.1 Alpha-thalassemia/impaired intellectual development syndrome 301040 XLD 3 ATRX 300032
ICD+
SNOMEDCT: 715342005
ORPHA: 847
DO: 0110030

3:
# 309580. INTELLECTUAL DISABILITY-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
Cytogenetic location: Xq21.1
Matching terms: 309580
 Phenotype-Gene Relationships   ICD+   Links 
Phenotype-Gene Relationships
Location Phenotype Phenotype
MIM number
Inheritance Phenotype
mapping key
Gene/Locus Gene/Locus
MIM number
Xq21.1 Intellectual disability-hypotonic facies syndrome, X-linked 309580 XLR 3 ATRX 300032
ICD+
ORPHA: 73220, 847
Search: 300032 301040 309580 (Search in: MIM number)
Results: 3 entries.

1:
* 300032. ATRX CHROMATIN REMODELER; ATRX
Cytogenetic location: Xq21.1, Genomic coordinates (GRCh38): X:77,504,880-77,786,216
Matching terms: 300032

2:
# 301040. ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED; ATRX
Cytogenetic location: Xq21.1
Matching terms: 301040

3:
# 309580. INTELLECTUAL DISABILITY-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1
Cytogenetic location: Xq21.1
Matching terms: 309580