Distal monosomy 1q
MONDO:00182051qter deletion syndrome is a chromosomal anomaly characterized by an intellectual deficiency, progressive microcephaly, seizures, growth delay, distinct facial dysmorphic features and various midline defects including cardiac, corpus callosum, gastro-oesophalgeal and urogenital anomalies.
Also known as: distal deletion 1q, distal monosomy type 1q, monosomy 1qter, telomeric deletion 1q
2 clinical trials for this condition and its sub-types.
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Disease
(618)
Human disease
(14)
Chromosomal disorder
(12)
Disease of genetic or genomic mechanism
(2)
Autosomal anomaly
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Chromosome 1 disorder
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Chromosome 1q deletion
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Disease by etiologic mechanism
(0)
Partial deletion of chromosome 1
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Syndrome caused by partial chromosomal deletion
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