Intellectual disability with hypotonia and distinctive facial features.
- Specialty
- Genetics
- Subspecialty
- Genetics / Single-gene syndromes
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes
- Gene(s) involved
- EHMT1
- Alternative names & eponyms
- 9q34 deletion syndrome
Etiology & mechanism
EHMT1 haploinsufficiency.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Kleefstra 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.
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Shares symptoms with
3 shared
Cohen syndrome
hypotonia, intellectual disability, microcephaly
3 shared
Cornelia de Lange syndrome
heart defects, intellectual disability, synophrys
3 shared
Cri du chat syndrome
hypotonia, intellectual disability, microcephaly
3 shared
Emanuel syndrome
heart defects, hypotonia, microcephaly
2 shared
Allan–Herndon–Dudley syndrome
hypotonia, intellectual disability
2 shared
Angelman syndrome
absent speech, microcephaly
2 shared
Cerebral folate deficiency syndrome
hypotonia, microcephaly
2 shared
Coffin–Siris syndrome
hypotonia, intellectual disability
2 shared
Congenital rubella syndrome
heart defects, microcephaly
2 shared
Crigler–Najjar syndrome
hypotonia, intellectual disability
Shares genes with
None.
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