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Definition

A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Patients may die in early childhood. GAMOS1 inheritance is autosomal recessive.

Acronym

GAMOS1

Synonyms

CAMOS
Cerebellar ataxia with mental retardation optic atrophy skin abnormalities
Galloway-Mowat syndrome
Galloway syndrome
Microcephaly, hiatal hernia, and nephrotic syndrome
Nephrosis-microcephaly syndrome
Nephrosis-neuronal dysmigration syndrome
SCAR5
Spinocerebellar ataxia, autosomal recessive, 5

Keywords

Epilepsy
Mental retardation

 
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