1q44 microdeletion syndrome
MONDO:00165611q44 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, developmental delay, in particular of expressive speech, seizures and hypotonia.
Also known as: Del(1)(q44), monosomy 1q44, chromosome 1q44 microdeletion syndrome
0 clinical trials for this condition and its sub-types.
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Disease
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Human disease
(14)
Chromosomal disorder
(12)
Disease of genetic or genomic mechanism
(2)
Autosomal anomaly
(0)
Chromosome 1 disorder
(0)
Chromosome 1q deletion
(0)
Disease by etiologic mechanism
(0)
Partial deletion of chromosome 1
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Syndrome caused by partial chromosomal deletion
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