GenTIGSA Gene Database on Rare Genetic Disorders
Alpha Thalassemia-X-linked Intellectual Disability Syndrome  
Disease Aliases (83)

Alpha-thalassemia/mental retardation syndrome, nondeletion type

Alpha-thalassemia/mental retardation syndrome, x-linked

Alpha-thalassemia/intellectual disability syndrome, x-linked

Alpha-thalassemia/intellectual disability syndrome, x-linked; atrx

Alpha-thalassemia/mental retardation syndrome, x-linked; atrx

Atr non deletion type

Atr, nondeletion type

Atr-x syndrome

Atr-x-related syndrome

Atrx

Atrx syndrome

Alpha thalassemia x-linked intellectual disability syndrome

Alpha thalassemia x-linked mental retardation syndrome

Alpha thalassemia-mental retardation, x-linked

Alpha thalassemia x-linked intellectual deficit

Alpha thalassemia intellectual disability syndrome, nondeletion type, x-linked

Alpha thalassemia mental retardation syndrome, non deletion type, x-linked

Alpha thalassemia mental retardation syndrome, nondeletion type, x-linked

Alpha thalassemia/intellectual disability syndrome x-linked

Alpha thalassemia/mental retardation syndrome x-linked

Alpha-thalassemia x-linked intellectual disability syndrome

Alpha-thalassemia-mental retardation syndrome, nondeletion type

Alpha-thalassemia-mental retardation syndrome, nondeletion type, x-linked

Alpha-thalassemia x-linked mental retardation syndrome

Alpha-thalassemia x-linked intellectual disability syndrome

Alpha-thalassemia-x-linked intellectual disability syndrome

Alpha-thalassemia/intellectual disability syndrome, nondeletion type

Carpenter-waziri syndrome

Chudley-lowry syndrome

Chudley lowry hoar syndrome

Chudley intellectual disability syndrome

Chudley mental retardation syndrome

Chudley syndrome 1

Chudley-lowry-hoar syndrome

Holmes-gang syndrome

Intellectual disability, x-linked with growth delay, deafness, microgenitalism

Intellectual disability, x-linked, with growth retardation, deafness, and microgenitalism

Jms

Juberg marsidi syndrome

Juberg-marsidi intellectual disability syndrome

Juberg-marsidi syndrome

Mrxhf1

Mental retardation

Mental retardation smith fineman myers type

Sfm1

Sfms

Smith-fineman-myers syndrome 1

Smith fineman myers syndrome

Smith fineman myers syndrome 1

Smith-fineman-myers syndrome

X-linked alpha-thalassemia mental retardation syndrome

X-linked alpha thalassemia mental retardation syndrome

X-linked alpha-thalassemia/intellectual disability syndrome

X-linked hypogonadism gynecomastia intellectual disability

X-linked hypogonadism gynecomastia mental retardation

X-linked intellectual disability-hypotonic face syndrome

X-linked intellectual disability-hypotonic facies syndrome 1

Xlmr hypotonic face syndrome

Xlmr-hypotonic facies syndrome

Xlmr-hypotonic face syndrome

Alpha thalassemia-x-linked intellectual disability syndrome

Alpha-thalassemia/intellectual disability syndrome nondeletion type

Alpha-thalassemia/mental retardation syndrome nondeletion type

And microgenitalism

Brooks-wisniewski-brown syndrome

Brooks-wisniewski-brown type

Deafness

Intellectual disability smith fineman myers type

Intellectual disability-hypotonic facies syndrome x-linked, 1

Intellectual disability-hypotonic facies syndrome, x-linked, 1

Intellectual disability-hypotonic facies syndrome, x-linked, 1; mrxhf1

Intellectual disability-hypotonic facies syndrome, x-linked, type 1

Mental retradation, x-linked with growth delay, deafness, microgenitalism

Mental retardation and macrocephaly syndrome

Mental retardation, x-linked, with growth retardation, deafness, and microgenitalism

Mental retardation-hypotonic facies syndrome x-linked, 1

Mental retardation-hypotonic facies syndrome, x-linked, 1

Mental retardation-hypotonic facies syndrome, x-linked, 1; mrxhf1

Mental retardation-hypotonic facies syndrome, x-linked, type 1

Syndromic

Turner type

With growth retardation

Associated Genes (1)
 

NCBI-RefSeq:  HUWE1   (HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of Alpha thalassemia-X-linked intellectual disability syndrome OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations