" /> Alpha-thalassemia/impaired intellectual development syndrome, deletion type - CISMeF





Preferred Label : Alpha-thalassemia/impaired intellectual development syndrome, deletion type;

CISMeF acronym : HBHR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Atr, deletion-type; HBHR; Hemoglobin h-related mental retardation; Alpha-thalassemia/mental retardation syndrome, deletion-type; Mental retardation with hemoglobin h; Atr-16 syndrome; Chromosome 16p deletion syndrome; Alpha-thalassemia/mental retardation syndrome, chromosome 16-related;

Inheritance : Autosomal dominant;

Molecular basis : A contiguous gene syndrome caused by deletion of the alpha-1 hemoglobin (141800) and alpha-2 hemoglobin (141850) genes;

Laboratory abnormalities : Subtelomeric deletion of chromosome 16p; Normal serum ferritin;

Prefixed ID : #141750;

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27/07/2025


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