Derivative chromosome 22 syndrome from 11;22 translocation.
- Specialty
- Genetics
- Subspecialty
- Genetics / Chromosomal disorders
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, congenital
- Gene(s) involved
- None recorded
- Alternative names & eponyms
- Supernumerary der(22) syndrome
Etiology & mechanism
Supernumerary derivative chromosome from parental t(11;22).
Gene(s) involved (0)
No gene recorded for this syndrome.
Symptoms & signs (6)
In plain terms, someone with Emanuel syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
3 shared
Kleefstra syndrome
heart defects, hypotonia, microcephaly
2 shared
Cat eye syndrome
heart defects, preauricular tags
2 shared
Cerebral folate deficiency syndrome
hypotonia, microcephaly
2 shared
Cohen syndrome
hypotonia, microcephaly
2 shared
Congenital rubella syndrome
heart defects, microcephaly
2 shared
Cri du chat syndrome
hypotonia, microcephaly
2 shared
Miller–Dieker syndrome
hypotonia, severe intellectual disability
2 shared
Smith–Lemli–Opitz syndrome
cleft palate, microcephaly
2 shared
Wolf–Hirschhorn syndrome
cleft palate, heart defects
1 shared
Aicardi–Goutières syndrome
microcephaly
Shares genes with
None.
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