Lissencephaly with characteristic facies from 17p13.3 deletion.
- Specialty
- Genetics
- Subspecialty
- Genetics / Chromosomal disorders
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, congenital
- Gene(s) involved
- PAFAH1B1, YWHAE
- Alternative names & eponyms
- 17p13.3 deletion syndrome
Etiology & mechanism
Contiguous deletion of PAFAH1B1 and YWHAE.
Gene(s) involved (2)
Symptoms & signs (6)
In plain terms, someone with Miller–Dieker 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
Sotos syndrome
hypotonia, prominent forehead, seizures
2 shared
Cerebral folate deficiency syndrome
hypotonia, seizures
2 shared
Coffin–Siris syndrome
feeding difficulty, hypotonia
2 shared
Congenital myasthenic syndrome
feeding difficulty, hypotonia
2 shared
Crigler–Najjar syndrome
hypotonia, seizures
2 shared
Emanuel syndrome
hypotonia, severe intellectual disability
2 shared
Menkes syndrome
hypotonia, seizures
2 shared
Pallister–Killian syndrome
seizures, severe intellectual disability
2 shared
Pitt–Hopkins syndrome
seizures, severe intellectual disability
2 shared
Zellweger syndrome
hypotonia, seizures
Shares genes with
None.
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