Alpha thalassaemia X-linked mental retardation syndrome

Introduction: Alpha thalassaemia X-linked mental retardation syndrome

Description of Alpha thalassaemia X-linked mental retardation syndrome

Alpha thalassaemia X-linked mental retardation syndrome: A variant of the alpha-thalassemia/mental retardation syndrome (ATR) without deletion of the short arm of chromosome 16, or without detectable molecular abnormalities of the alpha-globin complex. A form in which there is a deletion of the short arm of chromosome 16 is termed "alpha-thalassemia/mental retardation syndrome, deletion type" (q.v.). The phenotype of the nondeletion form comprises severe mental deficiency, facial abnormalities, short stature, genital deformities, and a mild form of hemoglobin H disease.
Source: Diseases Database

Alpha thalassaemia X-linked mental retardation syndrome: Related Topics

These medical condition or symptom topics may be relevant to medical information for Alpha thalassaemia X-linked mental retardation syndrome:

• X-linked mental retardation
• X-linked
• X-linked diseases
• Mental retardation (2098 causes)
• Thalassaemia
• Linked
• Mental
• Mental symptoms (3121 causes)
• Mental disease
• Mental disorder

Terms associated with Alpha thalassaemia X-linked mental retardation syndrome:

Terms Similar to Alpha thalassaemia X-linked mental retardation syndrome:

• Alpha-thalassemia mental retardation syndrome, nondeletion type

Source: Diseases Database

External links related to: Alpha thalassaemia X-linked mental retardation syndrome

• Hemoglobinopathies and Thalassemias
• Search Jablonski's Syndromes Database
• OMIM - ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED; ATRX
• GeneReviews: Alpha-Thalassemia X-Linked Mental Retardation Syndrome

Source: Diseases Database

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