chromosome 1p32-p31 deletion syndrome
1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.
MONDO:0003847
hereditary disease
is_a
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
MONDO:0016883
partial deletion of the short arm of chromosome 1
is_a
1p31p32 microdeletion syndrome
exact
BRMUTD
related
Del(1)(p31p32)
exact
chromosome 1p32-p31 deletion syndrome
exact
monosomy 1p31p32
exact