Chromosome 1p36 deletion syndrome
MONDO:0011929A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
Also known as: 1p telomere deletion syndrome, 1p36 deletion syndrome, 1p36 microdeletion syndrome, Del(1)(p36), chromosome 1p36 deletion syndrome, distal, isolated cases, deletion 1p36, deletion 1pter, monosomy 1p36
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Disease
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Human disease
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Chromosomal disorder
(12)
Disease of genetic or genomic mechanism
(2)
Autosomal anomaly
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Chromosome 1 disorder
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Disease by etiologic mechanism
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Partial deletion of chromosome 1
(0)
Partial deletion of the short arm of chromosome 1
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Syndrome caused by partial chromosomal deletion
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