Nonprogressive congenital cerebellar ataxia, iris heterochromia, mental retardation and language impairment in two brothers.
Lamonica
Dionisia Aparecida Cusin
DAC
Departamento de Fonoaudiologia, FOB-USP Serviço de Genética Clínica, Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, São Paulo, Brazil.
Maximino
Luciana P
LP
Abramides
Dagma V M
DVM
Souza
Deise H
DH
Richieri-Costa
Antonio
A
D000293:Adolescent; D001259:Ataxia / Q000150:complications* / Q000151:congenital*; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications*; D007499:Iris Diseases / Q000150:complications*; D007805:Language Development Disorders / Q000150:complications*; D008279:Magnetic Resonance Imaging; D008297:Male; D011247:Pregnancy; D035781:Siblings