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3 OMIM references -
5 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Malignant migrating partial seizures of infancy
Autosomal recessive deafness-onychodystrophy syndrome

KCNT1 TBC1D24
PLCB1
SCN1A
SLC25A22
TBC1D24


COMMON
GENES
TBC1D24



Citations in the biomedical literature:


Malignant migrating partial seizures of infancy
KCNT1 PLCB1 SCN1A SLC25A22 TBC1D24
Autosomal recessive deafness-onychodystrophy syndrome



Malignant migrating partial seizures of infancy
Autosomal recessive deafness-onychodystrophy syndrome

Synonym(s):
- MMPEI
- MMPSI
- MPEI
- MPSI
- Malignant migrating partial epilepsy of infancy
- Migrating partial epilepsy of infancy
- Migrating partial seizures of infancy

Synonym(s):
- DOOR syndrome
- Deafness - onycho-osteodystrophy - intellectual deficit
- Deafness - onychodystrophy - osteodystrophy - intellectual deficit

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
3 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.