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Chromosome 2q32-q33 deletion syndrome

MONDO:0012864

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.

Also known as: Del(2)(q32), Del(2)(q32q33), chromosome 2q32-q33 deletion syndrome, glass syndrome, monosomy 2q32-q33, monosomy 2q32q33, 2q32q33 microdeletion syndromes, SAS

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (680) Nervous system disorder (231) Hereditary disease (176) Neurodevelopmental disorder (147) Intellectual disability (133) Syndromic disease (25) Human disease (14) Chromosomal disorder (12) Hereditary neurological disease (6) Disease of genetic or genomic mechanism (2)
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