Orphanet: Moynahan syndrome

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Moynahan syndrome

Disease definition

A rare, genetic, epilepsy syndrome characterized by congenital alopecia, early-onset epilepsy, intellectual disability and speech delay. Large stature, delayed bone development and abnormal electroencephalogram have also been associated.

ORPHA:2574

Classification level: Disorder

Synonym(s):
- Alopecia-epilepsy-intellectual disability syndrome, Moynahan type
Prevalence: <1 / 1 000 000
Inheritance: -
Age of onset: Neonatal
ICD-10: G40.4
OMIM: 203600
UMLS: C0265328
MeSH: -
GARD: 606
MedDRA: -

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Moynahan syndrome

ORPHA:2574

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