chromosome 18q deletion syndrome
A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.
MONDO:0005027
epilepsy
excluded_subClassOf
MONDO:0015501
obsolete syndrome or malformation associated with head and neck malformations (obsolete MONDO:0015501)
excluded_subClassOf
MONDO:0020226
obsolete chromosomal anomaly with cataract (obsolete MONDO:0020226)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0016880
partial deletion of chromosome 18
is_a
18Q syndrome
exact
18q deletion syndrome
exact
18q-syndrome
exact
Chromosome 18q- Syndrome
exact
chromosome 18q deletion
related
chromosome 18q deletion syndrome
exact
deletion 18q
exact
deletion 18q syndrome
exact
monosomy 18q syndrome
related
monosomy type 18q
exact
partial deletion of chromosome 18q
exact
partial deletion of the long arm of chromosome 18
exact
partial deletion of the long arm of chromosome type 18
exact
partial monosomy of chromosome 18q
exact
partial monosomy of the long arm of chromosome 18
exact
proximal 18q deletion
narrow
proximal 18q deletion syndrome
narrow
proximal 18q-
narrow
proximal chromosome 18q deletion syndrome
narrow