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Alpha Thalassemia-X-Linked Intellectual Disability Syndrome (MONDO:0010519)

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

Overview

Category

syndromic disease

reproductive system disorder

nervous system disorder

endocrine system disorder

Ontology ID

MONDO:0010519

Internal:11676

Synonyms

ATR, nondeletion type

ATR-X syndrome

Alpha Thalassemia X-linked Intellectual Disability Syndrome

Alpha thalassemia X-linked intellectual disability syndrome

Alpha thalassemia X-linked mental retardation syndrome

Alpha thalassemia/intellectual disability syndrome X-linked

Alpha thalassemia/mental retardation syndrome X-linked

alpha thalassemia-X-linked intellectual disability syndrome

alpha-thalassemia/intellectual disability syndrome nondeletion type

alpha-thalassemia/mental retardation syndrome, X-linked dominant

ALPHA-thalassemia/intellectual disability syndrome, X-linked

ALPHA-thalassemia/mental retardation syndrome, X-linked

ATR, Nondeletion type

ATRX

ATRX syndrome

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

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

Alpha-thalassemia X-linked intellectual disability syndrome

Alpha-thalassemia-X-linked intellectual disability syndrome

Alpha-thalassemia/intellectual disability syndrome, Nondeletion type

Alpha-thalassemia/mental retardation syndrome, Nondeletion type

XLMR hypotonic face syndrome

Mapped terms

DOID:0110030

GARD:0005864

MEDGEN:337145

MESH:C538258

NANDO:1200665

NANDO:2100223

NANDO:2200839

NCIT:C118631

NORD:753

OMIM:301040

Orphanet:847

SCTID:715342005

UMLS:C1845055

Child terms

Unknown children.

Results

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